PROGRAMME BOOK

The Convergence of Two Major Meetings Joint Conference of HGM 2013 and 21st International Congress of Genetics

OF GLOBAL HEALTH AND SUSTAINABILITY 13 - 18 April 2013 The Sands Expo and Convention Center, Marina Bay Sands

Host Joint Conference Partner www.hgm2013-icg.org

1 Contents

Welcome Messages 3

Organising Committee 4

Conference Information 5

Programmes 9

Workshops 23

Speakers’ Index 24

Speakers’ Bio / Photo 32

Oral Presentation Schedule 66

Poster Presentation Schedule 71

Exhibition Floorplan 92

Exhibitor’s Listing 93

Sponsors & Exhibitions Profi le 94

Acknowledgements 100

2 Welcome Messages

I wish to welcome all delegates of the HGM 2013 / 21st International Congress of Genet- ics to Singapore. This joint event by the Human Genome Organisation (HUGO) and the International Genetics Federation (IGF) will explore two of the most important topics in the 21st century: Genetics and Genomics of Global Health and Sustainability. To that end, our conference will examine the interface between the health of individuals with the health of the planet.

The research topics that we will address include the genetics and genomics of human diseases, food crop and livestock improvement, ecological genomics, advanced genomic technologies, government policy and the management of a genome centred bioeconomy. It will be an intellectually broad and exciting event at which ideas and researchers from around the world interact. I would encourage delegates to use the HGM 2013 / 21st ICG conference as a meeting place to assemble their academic interest-groups for global deliberations and hope you will have an exciting time in this vibrant and cosmopolitan city of Singapore.

Finally, I want to inform all delegates that HGM 2014 will be held in the scenic mountain lake city of Geneva, Switzerland, and the theme of the meeting: Genome Variation and Human Health. We will be tackling the anticipated challenges faced by the spectacular advances in the rapid analysis of individual genome sequenced.

Edison Liu President, Human Genome Organisation

Dear delegates of the HGM 2013 / 21st International Congress of Genetics, as president of the International Genetics Federation (IGF) I would like to welcome you all very heartily to Singapore. The International Congress of Genetics (ICG) has been held approximately every fi ve years, ever since its fi rst congregation in London, 1899. We are very happy to present you the 21st ICG as a joint event with HGM 2013, organised by our colleagues from HUGO.

Science is a truly international endeavour. Over the course of 115 years, the twenty-one ICGs have been held in 14 different countries; today we meet in Singapore, for the fi rst time in Southeast Asia.

We chose ”Genetics and Genomics of Global Health and Sustainability“ as the frame of our presentations and discussions. This topic emphasizes the fundamental genetic basis of all aspects of life on our planet. At the same time, it highlights the breath taking perspective and powerful insights into this genetic basis generated by the broad and rapidly advancing molecular studies of complete genomes. We trust that this knowledge shall endow mankind with the means to help sustain healthy life on earth.

Toward that aim, all colleagues from the International Genetics Federation wish you a fruit- ful and inspiring congress here in Singapore.

Alfred Nordheim President, International Genetics Federation

3 Organising Committee

Local Organising Committee of HGM 2013

Prof Mohan Balasubramanian A/Prof Yijun Ruan Temasek Lifesciences Laboratory, Singapore Genome Institute of Singapore, Singapore National University of Singapore, Singapore Genome Technology, Singapore Genome Technology & Biology, Singapore Prof Kee-Seng Chia National University of Singapore, Singapore NUS-GIS Centre for Molecular Epidemiology National University of Singapore, Singapore A/Prof E-Shyong Tai National University of Singapore, Singapore Prof Neil Clarke National University Hospital, Singapore Genome Institute of Singapore, Singapore A/Prof Eng-King Tan Prof Stephen M. Cohen Singapore General Hospital, National Neuroscience Institute Institute of Molecular and Cell Biology, A*STAR, Singapore Duke-NUS Graduate Medical School, Singapore IMCB Workshop “Chemical Biology”, Singapore Ludwig Institute for Cancer Research, United Kingdom A/Prof Patrick Tan Genome Institute of Singapore, Singapore Prof Frank Eisenhaber Duke-NUS Graduate Medical School, Singapore Bioinformatics Institute, A*STAR, Singapore Institute of Genome Sciences and Policy, Duke University Cancer Science Institute of Singapore Prof Edison Liu National Cancer Centre, Singapore Human Genome Organisation (HUGO), Singapore National University of Singapore, Singapore Defence Medical & Environmental Research Institute, A/Prof Jianjun Liu DSO, Singapore Genome Institute of Singapore, Singapore Anhui Medical University, China A/Prof Yik-Ying Teo National University of Singapore, Singapore Prof Paul Matsudaira Life Sciences Institute Department of Biological Science, NUS Genome Institute of SIngapore NUS Centre of BioImaging Sciences, Singapore Prof Tien-Yin Wong A/Prof Niranjan Nagarajan National University of Singapore, Singapore Genome Institute of Singapore, Singapore National University Hospital, Singapore National University of Singapore, Singapore Singapore National Eye Centre, Singapore

Prof Ivy Ng A/Prof Eric Yap KK Women’s & Children’s Hospital, Singapore Defence Medical & Environmental Research Institute Singapore Health Services, Singapore (DSO), Singapore

International Programme Committee of 21st ICG Prof Philip Batterham Prof Bin Han The University of Melbourne, Australia National Centre for Gene Research, CAS, China Shanghai Institute for Biological Sciences, CAS, China Prof Welcome Bender (Co-Chair) Beijing Institute of Genomics, CAS, China Harvard Medical School, USA Prof Charles H. Langley Prof Pascale Cossart University of California, USA Pasteur Institute of Paris, France Prof Alfred Nordheim Prof Peter Donnelly University of Tuebingen, Germany Wellcome Trust Centre for Human Genetics University of Oxford, United Kingdom Prof David C. Page Whitehead Institute Prof Gerald R. Fink Massachusetts Institute of Technology Whitehead Institute Howard Hughes Medical Institute, USA Massachusetts Institute of Technology, USA Prof Detlef Weigel (Co-Chair) Max Planck Institute for Developmental Biology, Tübingen, Germany

4 Conference Information: Destination Map

5 Conference Information

Conference Venue Emergency Numbers Venue In case of emergencies, dial 999 for Police, 995 for Ambulance and Fire Brigade. The Sands Expo and Convention Center, Marina Bay Sands, 10 Bayfront Avenue, Singapore 018956 Time Difference Getting to the Conference Venue Singapore’s time is 8 hours ahead of the Greenwich Mean Time (GMT). By bus: Bus services 97/97E, 106, 133, 502/502A, 518/518A. Weather & Attire By car: Car park entrances are located at Sands Expo and Singapore is generally warm and fairly humid. The average Convention Centre, via the Bayfront Avenue and Bayfront daytime temperature is 31°C (88°F), dropping to around Link. The North entrance is located along Bayfront Avenue; 24°C (75°F) in the evenings. Do expect occasional show- and the South entrance is along Bayfront Link. Please note ers and heavy rainfall. Light and comfortable clothing is that motorcycle parking is not available. best for everyday wear, however do bring along a jacket or By Mass Rapid Transit (MRT): Nearest MRT Station and shawl to the conference as the venue is air-conditioned. Exit: Bayfront MRT Station, Exits D (Circle Line). Please check that the particular train is heading to Bayfront MRT Public Transport before boarding. If the train ends at Promenade station, Public transport is highly accessible and inexpensive in you will need to transfer to the next train heading towards Singapore. The following modes of travel are available: Bayfront MRT. Buses: A fl eet of more than 3,500 fully air-conditioned By taxi: Taxis may access Bayfront Avenue via Raffl es Boule- buses operate daily from 0530 to 2300. Fares for the vard or Marina Boulevard (ERP charges apply). A surcharge buses are as low as SGD1-2, depending on the number of of S$3 is imposed for taxis leaving Marina Bay Sands. fare stages travelled. Mass Rapid Transit (MRT): The air-conditioned passenger Around the Conference Venue train service has stations all over the cty. Trains operate Restaurants & Retail from 0600 to 2330 at frequencies of 3-8 minutes (peak The Shoppes at Marina Bay Sands is one of Singapore’s hours) and 10-15 minutes (off-peak hours). Travel fares by largest luxury shopping malls with a refreshing mix of MRT range from SGD1 onwards. international brands, emerging labels and new concepts. Taxis: Taxis can be fl agged down 24 hours a day on most roads. Well-marked taxi stands are available outside most Besides astounding retail indulgence, The Shoppes at shopping centres and hotels. Current rates/ applicable sur- Marina Bay Sands includes a mix of gourmet restaurants charges are obtainable at tourist information counters and and bistros. at the hotel concierge. Visitor Information Money Matters Singapore Dollar (SGD) is Singapore’s currency. Money chang- ing services and Automated Teller Machines (ATMs) can be found at the Singapore Changi Airport, most shopping centres and hotels around the island. Credit cards such as Visa, MasterCard and American Express are commonly accepted in restaurants and shops.

Electricity Singapore’s electrical voltage is 220-240 AC, 50 Hertz. A three-pin, square shaped plug socket system is used:

Most hotels provide a transformer to convert electrical appliances from 110-120 AC, 60 Hertz to the local voltage.

6 Conference Information

Registration Desk Speakers’ Preview Room Delegates can collect their badges at the Registration Desk A Speakers’ Preview Room, Roselle 4701A/B, Level 4, will (Level 4). Opening hours are as follows: be available for invited speakers and oral presenters at the conference. All invited speakers and oral presenters must Date Time report at least 2 hours prior to their presentation in order 13 April 2013 0800 – 1800 to check and deposit their presentations. Opening hours 14 April 2013 0730 – 1800 are as follows: 15 April 2013 0730 – 1600 Date Time 16 April 2013 0730 – 1630 13 April 2013 0800 – 1800 17 April 2013 0730 – 1600 14 April 2013 0730 – 1800 18 April 2013 0730 – 1700 15 April 2013 0730 – 1600 16 April 2013 0730 – 1630 All registrants are required to produce their registration confi rmation letter or registration number upon request. 17 April 2013 0730 – 1600 All badges are unique to the individual and are not trans- 18 April 2013 0730 – 1700 ferable. Media Centre Badges Media registrants are invited to work in the Media Working Identifi cation badges are required for admissions to all Room, Roselle 4601A, Level 4. sessions and offi cial functions. Registered delegates are requested to wear their badges at all times for identifi cation Medical Facilities and security purposes. In the event of a lost or forgotten Should any need arise, Marina Bay Sands has Team Members badge, a replacement fee of SGD75 will be applicable for across all departments who are trained & qualifi ed AED/ reprint of the badge at the Registration Desk upon provi- First Aiders on duty 24 hours a day. sion of the registration confi rmation letter or registration number. Approach any venue staff on duty so that they may render the appropriate assistance or call the emergency hotline: Exhibition Booths +65 6688 0999. The Exhibition Booths are located at the Peony Main Ball- room, Level 4. Opening hours are as follows: Nearest medical centre: MW Medical Centre (L1-02, Marina Bay Sands Shoppes) Date Time 14 April 2013 0930 – 1700 Lost & Found 15 April 2013 0930 – 1630 Lost items may be enquired at the Registration Desk (Level 16 April 2013 1000 – 1700 4). All delegates are advised to always carry their personal 17 April 2013 0930 – 1630 belongings with them, as beyond the conference area, The 18 April 2013 0930 – 1630 Sands Convention and Expo is accessible to the general public. The organisers will not be held liable for any loss Please refer to the Exhibitors Listing for a complete list of of private property belonging to delegates and accompany- Conference Exhibitors. ing persons.

Posters Display Liability Posters will be displayed in Orchid Main Ballroom, Level The Human Genome Organisation (HUGO), Marina Bay Sands and MCI Group Asia Pacifi c Pte Ltd, will not be 4. Opening hours are as follows: held liable for any personal injuries, loss of or damage to Date Time private property belonging to the conference delegates and 14 - 17 April 2013 0830 – 1800 accompanying persons.

Language Disclaimer The offi cial language of the conference is English and no All information provided in the conference programme is simultaneous interpretation will be provided. accurate at time of production and is subject to changes. The Organising Committee will not be held responsible for Certifi cate of Attendance any changes that may take place subsequent to the inclu- The Certifi cate of Attendance will be available for download sion of these details. post-conference.

7 Conference Information: Venue

Ballroom on Level 4 REGISTRATION

Legend: REGISTRATION EXHIBITION – PEONY MAIN BALLROOM POSTER DISPLAY – ORCHID MAIN BALLROOM PLENARY/CONCURRENT 1 – SIMPOR MAIN BALLROOM CONCURRENT 2 -5 – ROSELLE 4602 – ROSELLE 4604 – ROSELLE 4704 – ORCHID 4304 SPEAKERS’ PREVIEW ROOM – ROSELLE 4701AB MEDIA WORKING ROOM – ROSELLE 4601A

8 Programme: Day 1 - 13 April 2013

Day 1 – 13 April 2013 A. HUMAN GENETICS MEDICINE B. SUSTAINABILITY C. GENOMIC MEDICINE F. GENETIC MECHANISMS

0800 - 0930 REGISTRATION

0930 - 1000 WELCOME ADDRESS Venue: Simpor Ballroom 1000 - 1200 A1: Genetic Medicine of Metabolic Disorders Venue: Simpor Ballroom Genome Sequencing And Common Complex Disease: Lessons From Type 2 Diabetes - Mark McCarthy, UK (Chair/Speaker) The Genetics Of Metabolic Diseases In Multiethnic Populations - E Shyong Tai, Singapore (Co-Chair/Speaker) Searching For Genes For Healthy Obesity To Gain New Insights Is Physiology - Ruth Loos, USA 1000 - 1230 1000 - 1230 B1: Integrating Omics and Policy for Grand Challenges: Healthy Ageing Venue: Orchid 4304 Gerardo Jimenez-Sanchez, Mexico (Chair) Genetics of healthy ageing - Tom Kirkwood, UK Big Data and Integrative Omics in tackling Public Health issues for Ageing - Teo Yik Ying, Singapore Older Australian Twins Study (OATS) & other research - Margaret Wright, Australia The need for global action on ageing - Richard A. Johnson, USA A regulatory perspective - Diana Bowman, USA Challenge Driven Innovation Policy for Healthy Ageing - Jenni Nordborg, Sweden

SESSION B1 SPONSORED BY OECD 1000 - 1200 C1: Mendelian Genetic Diseases Venue: Roselle 4602 David Valle, USA Stylianos Antonarakis, Switzerland (Chair/Speaker) Aravinda Chakravarti, USA (Co-Chair/Speaker) 1000 - 1200 F1: Transcription & Chromatin Venue: Roselle 4704 Transcription And Its Regulation In Drosophila And Mammals: Local And Genome-Wide - John Lis, USA (Chair) 3D Chromatin Conformation And Gene Transcription Regulation - YiJun Ruan, USA Heike Wollmann, Singapore 1000 - 1230 HUGO - Pan-Asian Population Genomics Initiative (PAPGI) I Venue: Roselle 4604 Lai Poh San, Singapore (Chair) Samir Brahmanchari, India (Co-Chair) An Analysis Of Population Structure In Indigenous Malaysians - Maude Phipps, Malaysia Genome Arabia, At Last! - Fahd Al-Mulla, Kuwait Resolving Complex Population Structure Using Iterative Pruning Principle Component Analysis (Ippca) And Its Application In GWAS - Sissades Tongsima, Thailand The Malay Variome Project - Zilfalil Alwi, Malaysia Consortium Discussion (For members only)

All the information is correct as of 01 April 2013

9 Programme: Day 1 - 13 April 2013

1200 - 1330 1230 - 1330 Lunch Roche Lunch Symposium SPONSORED BY ROCHE Venue: Simpor Ballroom

1330 - 1530 1330 - 1530 A2: Genetics of Immune & Autoimmune Disorders Venue: Simpor Ballroom Hugo van Bever, Singapore (Chair) Immune-Mediated Disease Genetics – Lessons From Immunochip - Matthew Brown, Australia Olaf Rotzschke, Singapore

SESSION A2 SPONSORED BY BECTON, DICKINSON AND COMPANY 1330 - 1530 B2: Crop Disease Resistance Venue: Orchid 4304 Regulation Of Plant Immune Responses By Bik1 - Jian-Min Zhou, China (Chair) Deciphering Receptor Kinase-Mediated Innate Immunity - Cyril Zipfel, UK Sorina Popescu, USA 1330 - 1530 C2: Stem Cell Genomics Venue: Roselle 4604 Patrick Tan, Singapore (Chair) Systems Biology Of Stem Cells - Huck Hui Ng, Singapore Polycomb Complexes Co-Associate With A Specifi c Rna Polymerase Ii Variant In Mouse Es Cells - Ana Pombo, UK Reference Human Epigenomes - Martin Hirst, Canada

SESSION C2 SPONSORED BY GENOME CANADA 1330 - 1530 F2: Noncoding RNAs & miRNAs Venue: Roselle 4602 Steve Cohen, Singapore (Chair) Long Noncoding Rnas In Human Development And Disease - John Mattick, Australia The Ping-Pong Cycle Of Pirna Production In The Drosophila Ovary - Haruhiko Siomi, Japan 1330 - 1530 F3: Telomeres Biology and DNA Replication Venue: Roselle 4704 Hiroyuki Araki, Japan (Chair) Replication Timing Control By Telomere Proteins - Hisao Masukata, Japan DNA Replication Fork Progression In Eukaryotes - Bik Kwoon Tye, USA

1530 - 1600 Coffee Break

1630 - 1800 PLENARY LECTURE 1/2 Venue: Simpor Ballroom Mark McCarthy, UK (Chair) Joseph Takahashi, USA Jun Wang, China

1800 - 1900 PUBLIC FORUM - Rice for the Future: Strategies to Develop Sustainable Rice Production Venue: Simpor Ballroom Mohan Balasubramanian, Singapore (Chair) Naweed Naqvi, Singapore Prakash Kumar, Singapore

All the information is correct as of 01 April 2013

10 Programme: Day 2 - 14 April 2013

Day 2 – 14 April 2013 A. HUMAN GENETICS MEDICINE B. SUSTAINABILITY C. GENOMIC MEDICINE F. GENETIC MECHANISMS

0830 - 0930 PLENARY LECTURE 3 Venue: Simpor Ballroom Motoyuki Ashikari, Japan (Chair) Rice Genomics And Biotechnology: Feeding The Billions - Qifa Zhang, China

0930 - 1030 OPEN CEREMONY / OPENING OF EXHIBITION

1030 - 1230 A3: Neurogenetics Venue: Simpor Ballroom Eng King Tan, Singapore (Chair) JianJun Liu, Singapore Joris Veltman, The Netherlands Genome Wide Association Studies In Neurological Disease - Andrew Singleton, USA 1030 - 1230 B3: Tropical Parasites Venue: Orchid 4304 Alan F. Cowman, Australia (Chair) Access And Adaptation To An Intracellular Niche: The Apicomplexan Way - Dominique Soldati-Favre, Switzerland Comparative Transcriptomics Of Plasmodium - Peter Preiser, Singapore 1030 - 1230 C3: Cancer Genetics & Genomics Venue: Roselle 4602 1030 - 1300 Edison Liu, USA (Chair) Nazneen Rahman, UK Genomic Profi les of Asian-Endemic Cancers - Patrick Tan, Singapore Ong Sin Tiong, Singapore

SESSION C3 PRESENTATION (1230 - 1300) SPONSORED BY QIAGEN 1030 - 1230 C4: Therapies for Genetic Diseases Venue: Roselle 4604 Juergen Reichardt, Australia (Chair) David Lane, Singapore Gert Jan van Ommen, The Netherlands Therapies For Genetic Diseases: Lessons Learned From Pompe Disease - Yuan Tsong Chen, Taiwan 1030 - 1230 F4: Mobile Elements & Gene Silencing Venue: Roselle 4704 Mikiko Siomi, Japan (Chair) Genetics Of Dna Methylation In Genes And Transposons In Arabidopsis - Tetsuji Kakutani, Japan Xiaofeng Cao, China

All the information is correct as of 01 April 2013

11 Programme: Day 2 - 14 April 2013

1230 - 1400 Lunch 1300 - 1400 Exhibition & Poster Viewing Fluidigm Lunch Symposium SPONSORED BY FLUIDIGM CORPORATION Venue: Simpor Ballroom 1400 - 1600 A4: Genetic Medicine of Cardiovascular Disorders Venue: Roselle 4602 Martin Vingron, Germany (Chair) Mark Richards, Singapore Stuart Cook, UK Nadia Rosenthal, Australia 1400 - 1600 B4: Veterinary Genetics Venue: Orchid 4304 Genetic Architecture And Improvement Of Complex Traits - Mike Goddard, Australia (Chair) Michel Georges, Belgium From Rediscovery To Resequencing: 111 Years Of Veterinary Genetics - Frank Nicholas, Australia 1400 - 1600 C5: Human Metagenomics Venue: Roselle 4604 Partha Majumder, India (Chair) Martin Hibberd, Singapore Kyuyoung Song, South Korea George Weinstock, USA

SESSION C5 SPONSORED BY GENOME MEDICINE 1400 - 1600 C6: Animal Models of Human Diseases Venue: Simpor Ballroom Beyond Exomes: Noncoding In Vivo Function And Human Disease - Len Pennacchio, USA (Chair/Speaker) Gareth Howell, USA (Co-Chair/Speaker) 1400 - 1600 F5: Recombination & Cell Cycle Venue: Roselle 4704 Control Of Quiescence Induced By Starvation Of Glucose And Nitrogen Source - Mitsuhiro Yanagida, Japan (Chair) Common Features In The Immune Diversifi cation And Genome Instability - Tasuku Honjo, Japan Susan Gasser, Switzerland

1600 - 1630 Coffee Break

1630 - 1800 PLENARY LECTURE 4/5 Venue: Simpor Ballroom Martin Vingron, Germany (Chair) Jay Keasling, USA Caroline Dean, UK

1830 - 1930 A Agilentgilent EEveningvening SSymposiumymposium Identifi cation & Validation of Familial Breast Cancer Susceptibility Genes SPONSORED BY AGILENT TECHNOLOGIES Venue: Curiosity Gallery, Level 4 ArtScience Museum, Marina Bay Sands Admission is FREE

All the information is correct as of 01 April 2013

12 Programme: Day 3 - 15 April 2013

Day 3 – 15 April 2013 A. HUMAN GENETICS MEDICINE B. SUSTAINABILITY C. GENOMIC MEDICINE F. GENETIC MECHANISMS G. NON-HUMAN GENETIC MODELS

0830 - 0930 PLENARY LECTURE 6 Venue: Simpor Ballroom Edison Liu, USA (Chair) Full humanization of the mouse immunoglobulin loci for therapeutic antibody discovery - Allan Bradley, UK

0930 - 1000 Coffee Break AffymetrixiT Tea BBreak kP Presentation Exhibition & Poster Viewing SPONSORED BY AFFYMETRIX Venue: Simpor Ballroom

1000 - 1200 A5: Genetics of Infectious Diseases Venue: Orchid 4304 Julian Parkhill, UK (Co-Chair/Speaker) Development Of Pathgen® Chip Platform For Virus Diagnostics, Biosurveillance And Discovery - Chris Wong, Singapore Partha Majumder, India (Chair/Speaker)

SESSION A5 SPONSORED BY THERMO FISHER SCIENTIFIC 1000 - 1200 1000 - 1200 B5: Environmental Genomics Venue: Roselle 4602 Kartiki Desai, India (Chair) Andrew Allen, USA Edward Rubin, USA Towards Controlling Integrated Bioprocesses: Metagenomics And Metatranscriptomics Of A Complex Microbial Community - Staffan Kjelleberg, Singapore 1000 - 1200 C7: Pre-implantation Genetics/ Diagnostics Venue: Roselle 4604 Fetal Dna In Maternal Plasma: From Down Syndrome Detection To Fetal Genome Sequencing And Beyond - Dennis Lo, Hong Kong The Challenges of Preimplantation Genetic Diagnosis is Clinical Medicine - Dhavendra Kumar, UK (Chair/Speaker) Changing Face Of Clinical Diagnostics – Potential And Challenges - Poh San Lai, Singapore (Co-Chair/Speaker) 1000 - 1200 F6: Developmental Genetics Venue: Simpor Ballroom Tom Kornberg, USA (Chair) Emma Whitelaw, Australia Vivian Budnik, USA 1000 - 1200 Oral Presentation 1 Venue: Roselle 4704 Alfredo Hidalgo, Mexico (Chair)

All the information is correct as of 01 April 2013

13 Programme: Day 3 - 15 April 2013

1200 - 1330 Lunch 1230 - 1330 Exhibition & Poster Viewing Bio-Rad Lunch Symposium SPONSORED BY BIO-RAD Venue: Simpor Ballroom

1330 - 1530 1330 - 1530 A6: Behavioural Genetics Venue: Orchid 4304 Jianjun Liu, Singapore (Chair) Elissa Chelser, USA Stephen Scherer, Canada Shigeyoshi Itohara, Japan 1330 - 1530 B6: Crop Stress Tolerance Venue: Roselle 4602 Regulatory Gene Network In Drought Stress Response And Tolerance - Kazuo Shinozaki, Japan (Chair) Deepwater Rice Elongates Its Internode For Avoiding Deepwater Stress - Motoyuki Ashikari, Japan Thomas Ruff, USA 1330 - 1530 C8: Pharmacogenomics & Personalised Medicine Venue: Simpor Ballroom Yoshihide Hayashizaki, Japan (Chair) 1330 - 1530 Pauline Ng, Singapore From Genes To Therapies - Michael Hayden, Singapore Geoffrey Ginsburg, USA Klaus Lindpaintner, USA 1330 - 1530 F7: Hybrids, Speciation Venue: Roselle 4704 The Role Of Hybridization And Genomic Introgression In Adaptation And Population Splitting - Diethard Tautz, Germany Hybridization Reveals The Evolving Genomic Architecture Of Speciation - Marcus Kronforst, USA Michael Barker, USA 1330 - 1530 G1: Non-Flowering Plants Venue: Roselle 4604 John Bowman, Australia Induction Of A Single Transcription Factor Stemin Can Directly Change A Differentiated Leaf Cell To A Pluripotent Stem Cell In The Moss Physcomitrella Patens - Mitsuyasu Hasebe, Japan Jill Harrison, UK

1530 - 1600 Coffee Break

1600 - 1700 PLENARY LECTURE 7 Venue: Simpor Ballroom Edison Liu, USA (Chair) Mike Stratton, UK

1700 - 1800 FREE TIME

1800 - 2030 CONFERENCE DINNER

All the information is correct as of 01 April 2013

14 Programme: Day 4 - 16 April 2013

Day 4 – 16 April 2013 A. HUMAN GENETICS MEDICINE E. GENOMES & TECHNOLOGIES G. NON-HUMAN GENETICS (MODEL SYSTEMS)

0830 - 0930 PLENARY LECTURE 8 Venue: Simpor Ballroom Gerardo Jimenez-Sanchez, Mexico (Chair) Adventures In Personalized Medicine: Omics Profi ling And Genome Interpretiation - Mike Snyder, USA

0930 - 1000 Coffee Break

1000 - 1200 A7: Genetics of Aging and Senescence Venue: Roselle 4604 Todd Taylor, Japan (Chair) Genomics Of Aging And Longevity - Jan Vijg, USA Genomic Clues To Aging Well In Humans - David Melzer, UK Judes Poirier, Canada

SESSION A7 SPONSORED BY GENOME CANADA 1000 - 1200 A8: Genetics of Eye Diseases Venue: Roselle 4602 Aung Tin, Singapore Application Of Genetic Modifi er And Enu Mutagenesis Screens To Dissect Pathways Important In Retinal Function - Patsy Nishina, USA Lessons From The Genetics Of Developmental Eye Malformations - Veronica van Heyningen, UK (Chair/Speaker) Chiea Chuen Khor, Singapore (Co-Chair/Speaker) 1000 - 1200 1000 - 1200 E1: Genomics Venue: Simpor Ballroom Large-Scale Comparative Genomics For Cancer Research - David Haussler, USA (Chair) Ewan Birney, UK Richard A. Gibbs, USA 1000 - 1200 G2: Protists Model System Venue: Roselle 4704 Developmental Genome Rearrangements In Ciliates - Mariusz Nowacki, Switzerland (Chair) Gad Shaulsky, USA Cynthia Yingxin He, Singapore 1000 - 1200 G3: Flowering Plant Genetics Venue: Orchid 4304 Resequencing Rice Genomes For Genome-Wide Association And Domestication Studies - Bin Han, China (Chair) A Conserved Genetic Pathway Determines Infl orescence Architecture - Hao Yu, Singapore Analyzing Plant Structure And Function In The Genomics Era - Neelima Sinha, USA

1200 - 1830 Wellcome Trust Workshop on Working with ENCODE Data Venue: Orchid 4206

All the information is correct as of 01 April 2013 15 Programme: Day 4 - 16 April 2013

1200 - 1315 Lunch 1215 - 1315 Exhibition & Poster Viewing Oracle Lunch Symposium SPONSORED BY ORACLE Venue: Simpor Ballroom

1315 - 1400 PLENARY LECTURE 9 Linda Partridge, UK Venue: Simpor Ballroom

1400 - 1600 Oral Presentation 2 Venue: Roselle 4602 Yik-Ying Teo, Singapore (Chair) Rick Ong, Singapore (Co-Chair) Oral Presentation 3 Venue: Roselle 4604 Kartiki Desai, India (Chair) Oral Presentation 4 Venue: Roselle 4704 Todd Taylor, Japan (Chair)

HUMAN VARIOME PROJECT WORKSHOP Venue: Orchid 4304 Richard Cotton – General talk Graham Taylor, Australia Helen Robinson, Australia Gert Jan van Ommen – LOVD/ Leiden Veronica van Heyningen – Curation and Disease Specifi c Collection

BGI WORKSHOP Venue: Simpor Ballroom

1600 - 1630 Coffee Break Affymetrixi Tea Exhibition & Poster Viewing Break Presentation SPONSORED BY AFFYMETRIX Venue: Simpor Ballroom

1630 - 1730 GRUBER AWARD PRESENTATION Venue: Simpor Ballroom Lecture by Recipient of the 2013 Genetics Prize of The Gruber Foundation: Archaic Genomics - Svante Pääbo, Germany

1730 - 1830 HUGO MEMBERS’ MEETING

All the information is correct as of 01 April 2013 16 Programme: Day 5 - 17 April 2013

Day 5 – 17 April 2013 D. ELSI, POLICY, BIOBANKING E. GENOMES & TECHNOLOGIES G. NON-HUMAN GENETICS (MODEL SYSTEMS)

0830 - 0930 PLENARY LECTURE 10 Venue: Simpor Ballroom Julie Makani, Tanzania (Chair) Peer Bork, Germany

0930 - 1000 Coffee Break

1000 - 1200 D1: Ethical Controversies in Genetics & Genomics Venue: Roselle 4602 Ruth Chadwick, UK (Chair) Current Ethical Controversies - An Overview - Alastair Campbell, Singapore Hub Zwart, The Netherlands Solidarity: A Neglected Principle Of Ethics In Human Genomics - John Mulvihill, USA 1000 - 1200 D2: Biodiversity & Landscape Genetics Venue: Orchid 4304 Vincent Savolainen, London (Chair) Chris Wheat, Finland Marjorie Oleksiak, USA 1000 - 1200 1000 - 1200 G4: Microbial Genetics Venue: Simpor Ballroom Dynamic Organization Of Chromosomes In Fission Yeast - Yasushi Hiraoka, Japan Junbiao Dai, China Naweed Naqvi, Singapore (Chair/Speaker) 1000 - 1200 G5: Vertebrate Genetics Venue: Roselle 4704 Phil Ingham, Singapore (Chair) Jinrong Peng, China Karuna Sampath, Singapore Systematic discovery of novel cilia and ciliopathy genes through functional genomics in the zebrafi sh - Semil Choksi, Singapore 1000 – 1200 Oral Presentation 5 Venue: Roselle 4604 1200 - 1330 Lunch Exhibition & Poster Viewing

All the information is correct as of 01 April 2013

17 Programme: Day 5 - 17 April 2013

1330 - 1530 D3: Contributions of Pharmacogenomics towards Drug Regulatory Decisions Venue: Simpor Ballroom 1330 - 1530 Cynthia Sung, Singapore (Chair) How Can Pharmacogenomics Improve Effectiveness and Safety of Drugs – the EMA Perspective - Marisa Papaluca, UK The Story of Abacavir: from Research to Bedside - Eric Lai, USA Advancing Pharmacovigilance through Pharmacogenetics in Singapore - Dorothy Toh, Singapore Ethnic Difference and Pharmacogenomics of Asians in Drug Development and Regulation - Jae-Gook Shin, South Korea

SESSION D3 SPONSORED BY HSA 1330 - 1530 D4: Biobanking Venue: Roselle 4704 Ruth Chadwick, UK (Chair/Speaker) Kazuto Kato, Japan Chia Kee Seng, Singapore (Co-Chair/Speaker) 1330 - 1530 E2: New Methods for Genetic Screens Venue: Orchid 4304 The Genetic Landscape Of A Cell - Charlie Boone, Canada (Chair) Gero Miesenböck, UK 1330 - 1530 G6: Invertebrate Genetics Venue: Roselle 4602 Eric Miska, UK Raghu Padinjat, India Sue Celniker, USA (Chair/Speaker) 1330 – 1530 HUGO - Pan-Asian Population Genomics Initiative (PAPGI) II Venue: Roselle 4604 Lai Poh San, Singapore (Chair) Samir Brahmanchari, India (Co-Chair) Evaluation of Representation of Asian Genetic Diversity in the 1000 Genome Project - Shuhua Xu, China Genomics for Precision Medicine: An Analysis of Pharmacogenomic Markers in Asian Populations - Vinod Scaria, India Deep Sequencing on Malays And Indians From Singapore Baseline Cosmopolitan Populations - Rick Ong, Singapore Analysis of Natural Selection and Local Adaptation in the Indigenous Populations from Peninsular Malaysia - Boon Peng Hoh, Malaysia Andrea Manica, UK Mahmoud ElHefnawi, Egypt

1530 - 1600 Coffee Break

1600 - 1700 PLENARY LECTURE 11 Venue: Simpor Ballroom Susan Gasse, Switzerland (Chair) Luis Serrano, Spain

All the information is correct as of 01 April 2013

18 Programme: Day 6 - 18 April 2013

Day 6 – 18 April 2013 D. ELSI, POLICY, BIOBANKING E. GENOMES & TECHNOLOGIES G. NON-HUMAN GENETICS (MODEL SYSTEMS)

0830 - 0930 PLENARY LECTURE 12 Venue: Simpor Ballroom Aravinda Chakravarti, USA (Chair) Narry Kim, South Korea

0930 - 1000 Coffee Break

1000 - 1200 1000 - 1200 D5: Genetic Database & Privacy Venue: Roselle 4704 Alastair Campbell, Singapore (Chair) Sharing Data By Default, Facing The New Reality - Jeantine Lunshof, The Netherlands Jonathan Sheldon, USA Privacy, Rights And Genetic Databases - Benjamin Capps, Singapore 1000 - 1200 D6: Forensic Genetics Venue: Roselle 4604 Yoshihide Hayashizaki, Japan (Chair) Genomics and Technologies for the Next Generation Forensic Laboratory - Bruce Budowle, USA Howard Cash, USA Next Generation Mt-Genome Sequencing For Forensic Purposes Using The Ion Torrent Personal Genome Machine - Walther Parson, Austria 1000 - 1200 E3: Population Genetics & Genomics Venue: Roselle 4602 Where Ancestry Runs Deep: Ancient Balancing Selection In The Human Genome - Molly Przeworski, USA (Chair) Doris Bachtrog, USA Ary Hoffmann, Australia 1000 - 1200 G7: Mammalian Genetics Venue: Simpor Ballroom Maja Bucan, USA (Chair) Next-Gen Mouse Models For Understanding Human Disease - Edward Bertram, Australia Genetic Dissection Of Mouse Complex Traits With Inter-Subspecifi c Consomic Strains - Toshihiko Shiroishi, Japan

SESSION G7 SPONSORED BY JACKSON LAB

1230 - 1330 1200 - 1330 Lunch & Exhibition Jackson Lab Lunch Symposium SPONSORED BY JACKSON LAB Venue: Simpor Ballroom

All the information is correct as of 01 April 2013

19 Programme: Day 6 - 18 April 2013

1330 - 1530 1330 - 1530 D7: Global Health Venue: Roselle 4602 Genomics and Global Health: Perspective from Africa - Julie Makani, Tanzania (Chair/Speaker) Alfredo Hidalgo, Mexico (Co-Chair/Speaker) Samir Brahmachari, India 1330 - 1530 D8: Teaching Genetics Venue: Roselle 4604 Steve Rozen, Singapore (Co-Chair/Speaker) Teaching Genetics in The Twenty First Century - Dhavendra Kumar, UK (Chair/Speaker) Science Centre As An Effective Platform To Teach Genetics - Lim Tit Meng, Singapore 1330 - 1530 Application of Genomics Venue: Simpor Ballroom Stylianos Antonarakis, Switzerland (Chair) Krishna Dronamraju, USA Edison Liu, USA Aravinda Chakravarti, USA

SESSION SPONSORED BY PACIFIC BIOSCIENCES 1330 - 1530 Oral Presentation 6 Venue: Roselle 4704 Juergen Reichardt, Australia (Chair)

1530 - 1600 Coffee Break

1600 - 1700 Lecture by Recipient of Chen Award for Distinguished Academic Achievement in Human Genetic & Genomic Research 2013 Venue: Simpor Ballroom Stylianos Antonarakis, Switzerland (Chair) Yoshihide Hayashizaki, Japan

1700 - 1730 AWARD PRESENTATIONS/CLOSING CEREMONY Venue: Simpor Ballroom

All the information is correct as of 01 April 2013

20 Sponsors Programme

Roche Lunch Symposium Date: Saturday, 13 April Time: 1230 -1330 (1 Hour) Agenda: Roche Workfl ow Solutions for New Insights Into Human Genomes and Genetic Disease • Re-sequencing the human genome reference sequence Stephan Schuster, Ph.D. Professor Penn State University, USA & Nanyang Technological University, Singapore

• DNA hypermethylation of tumor suppressor genes is an earlier and more penetrant event than mutation in the colorectal adenoma-carcinoma sequence Prof. Béla Molnár, 2nd Department of Internal Medicine, Semmelweis University, 1088 Budapest, Hungary

Qiagen Tea Break Presentation Date: Sunday, 14 April Time: 1230-1300 (30 Mins) Agenda: • Transforming NGS for clinical research and diagnostics Dr. Erik Söderbäck, QIAGEN Market Development Manager NGS Europe

Fluidigm Lunch Symposium Date: Sunday, 14 April Time: 1300-1400 (1 Hour) Agenda: • Defi ning Early Embryonic Cellular State Spaces with Single-Cell Transcriptomics Paul Robson, Developmental Cellomics Laboratory, Genome Institute of Singapore

• Preventing “Identity Theft” at a Biobank through Analytical and Functional Quality Control Dr. Andrew I. Brooks, COO, RUCDR Infi nite Biologics. Associate Professor of Genetics, Rutgers University

• From Sanger to NGS : Making the Transition in the Clinical Research Laboratory Dr. Andrew Fellowes, Peter MacCallum Cancer Institute, Department of Pathology

Agilent Evening Symposium Date: Sunday, 14 April Time: 1800-1900 (1 Hour) Agenda: • A Complete Target Enrichment Workfl ow Dr MAITHREYAN SRINIVASAN, Senior Director of Genomic R&D, Agilent Technologies

• Identifi cation and validation of familial breast cancer susceptibility genes Prof Ian Campbell, Peter McCallum Cancer Centre

• Simplify Genomic DNA Quantifi cation and QC Dr. Donna McDade, Senior Product Manager, Agilent Technologies

21 Sponsors Programme

Affymetrix Tea Break Presentation Date: Monday, 15 April Time: 0930-1000 (30 Mins) Agenda: Genomics of Cancer: From Bench to Bedside • Welcome and introduction Ruby Gadelrab, Head of Marketing and Clinical Development, International Markets, Affymetrix

• Cancer Diagnostics with Microarrays: Using Gene Expression Analysis to Identify Tissue of Origin Federico A. Monzon, MD, Director of Molecular Pathology, Cancer Genetics Laboratory, Baylor College of Medicine

Bio-Rad Lunch Symposium Date: Monday, 15 April Time: 1230-1330 (1 Hour) Agenda: • Digital PCR allows easy transfer of qPCR assays to clinical application: bcr-abl and viral load assays as examples PROF. PETER M. GEORGE MBBS, BSc, FRCPA, Clinical Director, Canterbury Health Laboratories, Medical Director, Core/Specialist/Genetics Clusters

Oracle Lunch Symposium Date: Tuesday, 16 April Time: 1215-1315 (1 Hour) Agenda: • Graduating to the Clinic: Informatics challenges as translational research moves to the point of care Andrew Boudreau, Senior Principal Product Strategist, Translational Medicine, Oracle Health Sciences Global Business Unit

Affymetrix Tea Break Presentation Date: Tuesday, 16 April Time: 1600-1630 (30 Mins) Agenda: Genomics Signatures to Precision Medicine • Welcome and introduction Ruby Gadelrab, Head of Marketing and Clinical Development, International Markets, Affymetrix

• Elucidation of the Origin of Breast and Ovarian Cancers through Genomic Profi ling of Precursor Lesions Ian Campbell, Associate Professor, VBCRC Cancer Genetics Lab, Peter MacCallum Cancer Centre

22 Workshops

Date: Tuesday, 16 April Time: 1200 – 1830 Wellcome Trust Workshop on Working with ENCODE Data In association with the HGM 2013 / 21st ICG meeting, we are pleased to announce a one-day workshop on “Working with ENCODE Data” to be held at The Sands Expo & Convention Centre, MBS (Level 4).

In this workshop, you will learn about the ENCODE Project (ENCyclopedia Of DNA Elements), which has provided a wealth of data sets designed to identify functional elements in the human genome. The workshop will be taught by experts in the fi eld, including Robert Kuhn from UCSC, Bert Overduin from EBI, and Jane Loveland from the GENCODE Consortium. The instructors will guide you through hands-on tutorials for accessing and interpreting ENCODE data in both the UCSC and Ensembl genome browsers.

12:00 - 12:30 Lunch and set up 12:30 - 13:45 Overview of the GENCODE reference gene set 13:45 - 15:00 Accessing Encode data with the UCSC genome browser 15:00 - 15:30 Coffee 15:30 - 18:00 Accessing Encode data with the Ensembl genome browser. Including: Datamining, uploading external data, variant effect predictor. 18:00 - 18:30 Analysis of participants data For details on the workshop programme and registration, click here http://www.sanger.ac.uk/resources/talksandtraining/opendoor/singapore.html Date: Tuesday, 16 April Time: 1400 – 1600 Human Genomics and Public Health: Is it time to establish a global program? If so, what might it achieve? The Human Variome Project (www.humanvariomeporject.org) is an international consortium of researchers and healthcare professionals that is facilitating the collection, curation, interpretation and sharing of all human genetic information. Our members cover a broad range of disciplines, from clinical geneticists to general practitioners, molecular biologists to cytogeneticists, informaticists, engineers and students. Our consortium is truly global covering 72 countries and all the key regions of the world. The common aim of Human Variome Project members is their commitment to the free and open sharing of genetic variation information. This commitment is based on the knowledge that collaboration across disciplines and cultures will produce better and cheaper results for patients with genetic diseases.

This workshop aims to advise of the Project’s current status and stimulate further activity in the audience. The speakers represent the major activities of the 945 Consortium members, including country specifi c and disease specifi c collection, curation and sharing. Date: Tuesday, 16 April Time: 1400 – 1600 BGI Workshop: Application of Translational Genomics in Human Health

1400 - 1430 Dr. Ming Qi (Zhejiang University School of Medicine, China) Topic: Research and Clinical Testing of Inherited Diseases by Targeted Capture Gene Panel and Exome Sequencing 1430 - 1500 Dr. Wenjing Wang(BGI, China) Topic: Application of Scientifi c Discoveries of Mendelian Disorders into Reproductive 1500 - 1530 Dr. Haojing Shao (BGI, China) Topic: A Population Model for Genotyping Indels from Next-generation Sequence Data 1530 - 1600 Dr. Mingbang Wang (BGI, China) Topic: Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder using Whole Genome Sequencing: The Autism Genome 10K-Project update

23 Speakers’ Index

First name Family Name Name of Institution Country Session Alan Cowman The Walter and Eliza Hall institute of Australia B3: Tropical Parasites Medical Research Alastair Campbell National University of Singapore Singapore D1: Ethical Controversies in Genetics & Genomics Alfredo Hidalgo Institute of Medical Research Mexico D7: Global Health Allan Bradley Wellcome Trust Sanger Institute UK Plenary Lecture 6 Ana Pombo Imperial College UK C2: Stem Cell Genomics Andrea Manica University of Cambridge UK HUGO - Pan-Asian Population Genomics Initiative (PAPGI) II Andrew Singleton National Institute of Health (NIH) USA A3: Neurogenetics Andrew Allen JCVI USA B5: Environmental Genomics Aravinda Chakravarti John Hopkins USA C1: Mendelian Genetics Diseases Ary Hoffmann University of Melbourne AUS E3: Population Genetics & Genomics Aung Tin Singapore Eye Research Institute Singapore A8: Genetics of Eye Diseases Benjamin Capps National University of Singapore Singapore D5: Genetic Databases & Privacy Bik-Kwoon Tye Cornell University / Hong Kong University USA / F3: Telomeres Biology & of Science & Technology, Cornell University Hong Kong DNA Replication Bin Han National Centre for Gene Research (NCGR) China G3: Flowering Plant Genetics Boon Peng Hoh Universiti Teknologi Mara Malaysia HUGO - Pan-Asian Population Genomics Initiative (PAPGI) II Bruce Budowle UNT Health Science Centre USA D6: Forensic Genetics Caroline Dean John Innes Centre, Norwich Research UK Plenary Lecture 5 Park Colney Charlie Boone University of Toronto Canada E2: New Methods for Genetic Screens Chiea Chuen Khor GIS Singapore A8: Genetics of Eye Diseases Chris Wheat University of Helsinki Sweden; D2: Biodiversity & Finland Landscape Genetics Christopher Wong GIS Singapore A5: Genetics of Infectious Diseases Cynthia Yingxin He National University of Singapore Singapore G2: Protists Model System Cyril Zipfel Sainsbury Laboratory, Norwich UK B2: Crop Disease Resistance David Valle John Hopkins Medical Institution USA C1: Mendelian Genetics Diseases David Serreze The Jackson Lab USA A2: Genetics of Immune & Autoimmune Disorders David Lane A*STAR, p53 Lab Singapore C4: Therapies for Genetic Diseases David Haussler Howard Hughes Medical Institute USA E1 : Genomics University of California, Santa Cruz David Melzer University of Exeter UK A7: Genetics of Aging and Senescence All the information is correct as of 02 April 2013

24 Speakers’ Index

First name Family Name Name of Institution Country Session

Dennis Lo The Chinese University of Hong Kong Hong Kong C7: Pre-implantation Genetics/Diagnostics Dhavendra Kumar Cardiff University UK C7: Pre-Implantation Genetics/Diagnostics Diana Bowman University of Michigan USA B1: Integrating Omics and Policy for Grand Challenges: Healthy Ageing Diethard Tautz Max Planck Institute for Evolutionary Germany F7: Hybrids, Speciation Biology Dominique Soldati-Favre University of Geneva Switzerland B3: Tropical Parasites Doris Bachtrog University of California USA E3: Population Genetics & Genomics E Shyong Tai National University of Singapore Singapore A1: Genetic Medicine of Metabolic Disorders Edison Liu The Jackson Lab USA Application of Genomics Edward Rubin DOE Joint Genome Institute USA B5: Environmental Genomics Edward Bertram Australian National University (ANU) Australia G7: Mammalian College of Medicine, Biology & Environment Genetics Elissa Chesler The Jackson Lab USA A6: Behavioural Genetics Emma Whitelaw Queensland Institute for Medical Research Australia F6: Developmental Genetics Eng King Tan National University of Singapore Singapore A3: Neurogenetics Eric Miska Gurdon Institute UK G6: Invertebrate Genetics Ewan Birney European Bioinformatics Institute (EBI) UK E1: Genomics Fahd Al-Mulla Kuwait University Kuwait HUGO - Pan-Asian Population Genomics Initiative (PAPGI) I Frank Nicholas University of Sydney Australia B4: Veterinary Genetics Gad Shaulsky Baylor College of Medicine USA G2: Protist Model System Gareth Howell The Jackson Lab USA C6: Animal Modes of Human Diseases Geoffrey Ginsburg Duke Institute for Genomic sciences & Policy USA C8: Pharmacogenomics & Personalised Medicine George Weinstock The Genome Institute USA C5: Human Metagenomics Gero Miesenböck Oxford University, Oxford UK E2: New Methods for Genetic Screens Gert Jan van Ommen Leiden University The Netherlands C4: Therapies for Genetic Diseases; HVP Workshop Graham Taylor University of Melbourne Australia HVP Workshop Hao Yu Temasek Lifesciences Laboratory, Singapore Singapore G3: Flowering Plant Genetics Haojing Shao Beijing Genomics Institute (BGI) China BGI Workshop Siomi Keio University School of Medicine Japan F2: Noncoding RNAs & miRNAs

All the information is correct as of 02 April 2013

25 Speakers’ Index

First name Family Name Name of Institution Country Session

Heike Wollmann Temasek Life Sciences Laboratory Singapore F1: Transcription & Chromatin Helen Robinson University of Melbourne Australia HVP Workshop Hiroyuki Araki National Institute of Genetics Japan F3: Telomeres Biology & DNA Replication Hisao Masukata Graduate School of Science, Osaka University Japan F3: Telomeres Biology & DNA Replication Howard Cash Gene Codes Corporation USA D6: Forensic Genetics Hub Zwart Radboud University Nijmegen Netherlands D1: Ethical Controversies in Genetics & Genomics Huck Hui Ng Genome Institute of Singapore (GIS) Singapore C2: Stem Cell Genomics Jan Vijg Yeshiva University USA A7: Genetics of Aging and Senescence Jay D. Keasling University of California Berkeley USA Plenary Lecture 4 CEO, Joint BioEnergy Institute Jeantine Lunshof VU University Amsterdam & Netherlands Netherlands D5: Genetic Databases & Institute for Systems Biology (NISB) Privacy Jenni Nordborg VINNOVA Sweden B1: Integrating Omics and Policy for Grand Challenges: Healthy Ageing Jianjun Liu Genome Institute of Singapore (GIS) Singapore A3: Neurogenetics Jian-Min Zhou National Institute of Biological Sciences China B2: Crop Diseases in Beijing (NIBS) Resistance Jill Harrison Cambridge University, Cambridge UK G1: Non-Flowering Plants Jinrong Peng College of Animal Sciences, China G5: Vertebrate Genetics Zhejiang University John Lis Cornell University USA F1: Transcription & Chromatin John Mattick Garvan Institute of Medical Research Australia F2: Noncoding RNAs & miRNAs John Mulvihill University of Oklahoma Health USA D1: Ethical Controversies Sciences Center in Genetics & Genomics John Bowman Monash University Australia G1: Non-Flowering Plants Jonathan Sheldon Oracle USA D5: Genetic Databases & Privacy Joris Veltman University of Nijmegen The Netherlands A3: Neurogenetics Joseph Takahashi University of Texas Southwestern USA Plenary Lecture 1 Medical Center Judes Poirier McGill University Canada A7: Genetics of Aging and Senescence Julian Parkhill Wellcome Trust Sanger Institute UK A5: Genetics of Infectious Diseases Julie Makani Muhimbili University of Health & Tanzania D7: Global Health Allied Sciences Jun Wang Beijing Genomics Institute (BGI) China Plenary Lecture 2 Junbiao Dai Tsinghua University China G4: Microbial Genetics Karuna Sampath Temasek Life Sciences Laboratory (TLL) Singapore G5: Vertebrate Genetics Kazuo Shinozaki RIKEN Plant Science Center Japan B6: Crop Stress Tolerance

All the information is correct as of 02 April 2013

26 Speakers’ Index

First name Family Name Name of Institution Country Session

Kazuto Kato Kyoto University Japan D4: Biobanking Kee Seng Chia National University of Singapore Singapore D4: Biobanking Klaus Lindpaintner ThermoFisher Scientifi c USA C8: Pharmacogenomics & Personalised Medicine Krishna Dronamraju Foundation for Genetics Research USA Application of Genomics Kyuyoung Song Asan Medical Center South Korea C5: Human Metagenomics Len Pennacchio Lawrence Berkeley Laboratory USA C6: Animal Modes of Human Diseases Linda Partridge Evolution and Environment of UK Plenary Lecture 9 University College London Luis Serrano Pubul Centre for Genomic Regulation (CRG) Barcelona, Spain Plenary Lecture 11 Mahmoud ElHefnawi National Research Centre Egypt HUGO - Pan-Asian Population Genomics Initiative (PAPGI) II Maja Bucan University of Pennsylvania USA G7: Mammalian Genetics Marcus Kronforst Harvard University, Cambridge USA F7: Hybrids, Speciation Margaret Wright Queensland Institute for Medical Research Australia B1: Integrating Omics and Policy for Grand Challenges: Healthy Ageing Marisa Papaluca European Medicine Agency UK D3: Contributions of Pharmacogenomics towards Drug Regulatory Decisions Mariusz Nowacki University of Bern Switzerland G2: Protists Model System Marjorie Oleksiak University of Miami USA D2 Biodiversity & Landscape Genetics Mark McCarthy Wellcome Trust UK A1: Genetic Medicine of Metabolic Disorders Mark Richards National University of Singapore Singapore A4: Genetics Medicine of Cardiovascular Disorders Martin Hirst BC Cancer Agency Canada C2: Stem Cell Genomics Martin Hibberd GIS Singapore C5: Human Metagenomics Matthew Brown University of Queensland Australia A2: Genetics of Immune & Autoimmune Disorders Maude Phipps Monash University Malaysia HUGO - Pan-Asian Population Genomics Initiative (PAPGI) I Michael Barker University of Arizona, Tucson USA F7: Hybrids, Speciation Michael Hayden Teva Pharmaceutical Industries Ltd, Israel, Canada/ C8: Pharmacogenomics Centre for Molecular Medicine and Singapore & Personalised Medicine Therapeutics (CMMT), Canada & Translational Laboratory in Genetic Medicine (TLGM), Singapore Michel Georges University of Liège Belgium B4: Veterinary Genetics Ming Qi Zhejiang University School of Medicine China BGI Workshop Mingbang Wang Beijing Genomics Institute (BGI) China BGI Workshop

All the information is correct as of 02 April 2013

27 Speakers’ Index

First name Family Name Name of Institution Country Session

Mike Goddard University of Melbourne Australia B4: Veterinary Genetics Mike Stratton Wellcome Trust Sanger Institute UK Plenary Lecture 7 Mike Snyder Stanford Center for Genomics and USA Plenary Lecture 8 Personalised Medicine Mikiko Siomi Keio University School of Medicine Japan F4: Mobile Elements & Gene Silencing Mitsuhiro Yanagida Okinawa Institute of Science and Technology Japan F5: Recombination and Cell Cycle Mitsuyasu Hasebe National Institute of Basic Biology, Okazaki Japan G1: Non-Flowering Plants Molly Przeworski University of Chicago USA E3: Population Genetics & Genomics Motoyuki Ashikari Nagoya University, Nagoya Japan B6: Crop Stress Tolerance Nadia Rosenthal Australian Regenerative Medicine Australia A4: Genetics Institute (ARMI) Medicine of Cardiovascular Disorders Narry Kim Seoul National University South Korea Plenary Lecture 12 Naweed Naqvi Temasek Life Sciences Laboratory (TLL) Singapore Public Forum Nazneen Rahman The Institute of Cancer Research UK C3: Cancer Genetics & Genomics Neelima Sinha University of California, Davis USA G3: Flowering Plant Genetics Olaf Rotzschke Singapore Immunology Network Singapore A2: Genetics of Immune & Autoimmune Disorders Partha Majumder National Institute of Biomedical Genomics India A5: Genetics of Infectious Diseases Patrick Tan GIS Singapore C3: Cancer Genetics & Genomics Patsy Nishina The Jackson Lab USA A8: Genetics of Eye Diseases Pauline Ng Genome Institute of Singapore (GIS) Singapore C8: Pharmacogenomics & Personalised Medicine Peer Bork European Molecular Biology Germany Plenary Lecture 10 Laboratory (EMBL) Peter Preiser Nanyang Technological University Singapore B3: Tropical Parasites Poh San Lai National University of Singapore Singapore C7: Pre-Implantation Genetics/Diagnostics Prakash Gasser National University of Singapore Singapore Public Forum Qifa Zhang National Key Laboratory of Crop China Plenary Lecture 3 Genetic Improvement, Huazhong Agricultural University Raghu Padinjat National Centre for Biological Sciences India G6: Invertebrate Genetics Ramanuj Dasgupta New York University School of Medicine USA C2: Stem Cell Genomics Richard Cotton University of Melbourne Australia HVP Workshop Richard A. Gibbs Baylor College of Medicine USA E1: Genomics Richard Johnson Global Helix LLC USA B1: Integrating Omics and Policy for Grand Challenges: Healthy Ageing

All the information is correct as of 02 April 2013

28 Speakers’ Index

First name Family Name Name of Institution Country Session

Rick Ong National University Health System Singapore HUGO - Pan-Asian Population Genomics Initiative (PAPGI) II Ruth Chadwick Cardiff University UK D4: Biobanking Ruth Loos Mount Sinai Hospital USA A1: Genetic Medicine of Metabolic Disorders Samir Brahmachari Council of Scientifi c and Industrial India D7: Global Health Research (CSIR) Semil Choksi Institute of Molecular and Cell Biology Singapore G5: Vertebrate Genetics Shigeyoshi Itohara Riken Brain Science Institute Japan A6: Behavioural Genetics Shuhua Xu Shanghai Institute for Biological China HUGO - Pan-Asian Sciences, CAS Population Genomics Initiative (PAPGI) II Sin Tiong Ong Duke-NUS Graduate Medical Singapore C3: Cancer Genetics & School Singapore Singapore Genomics Sissades Tongsima Genome Institute, Biotech Thailand HUGO - Pan-Asian Population Genomics Initiative (PAPGI) I Sorina Popescu Boyce Thompson Institute, Ithaca USA B2 Crop Disease Resistance Staffan Kjelleberg Nanyang Technological University Singapore B5: Environmental Genomics Stephen Scherer The Hospital for Sick Kids Canada A6: Behavioural Genetics Steve Cohen Institute of Molecular and Cell Biology (IMCB) Singapore F2: Noncoding RNAs & miRNAs Steve Rozen Duke University Singapore Singapore D8: Teaching Genetics Stuart Cook Imperial College UK A4: Genetics Medicine of Cardiovascular Disorders Stylianos E. Antonarakis University of Geneva Switzerland C1: Mendelian Genetic Diseases Sue Celniker Lawrence Berkeley National Laboratory USA G6: Invertebrate Genetics Susan Gasser Friedirch Miescher Institute, Basel Switzerland F5: Recombination and Cell Cycle Tasuku Honjo Kyoto University, Kyoto Japan F5: Recombination and Cell Cycle Tetsuji Kakutani National Institute of Genetics, Shizuoka Japan F4: Mobile Elements & Gene Silencing Thomas Ruff Monsanto, St. Louis USA B6: Crop Stress Tolerance Tit Meng Lim Science Centre Singapore Singapore D8: Teaching Genetics Tom Kirkwood Newcastle University UK B1: Integrating Omics and Policy for Grand Challenges: Healthy Ageing Tom Kornberg University of California USA F6: Developmental Genetics Toshihiko Shiroishi National Institute of Genetics Japan G7: Mammalian Genetics

All the information is correct as of 02 April 2013

29 Speakers’ Index

First name Family Name Name of Institution Country Session

Veronica van Heyningen Institute of Genetics and Molecular Science UK A8: Genetics of Eye Diseases; HVP Workshop Vincent Savolainen Imperial College UK D2: Biodiversity & Landscape Genetics Vinod Scaria Institute of Genomics and India HUGO - Pan-Asian Integrative Biology (CSIR) Population Genomics Initiative (PAPGI) II Vivian Budnik University of Massachusetts Medical School USA F6: Developmental Genetics Walther Parson University of Innsbruck Austria D6: Forensic Genetics Wenjing Wang Beijing Genomics Institute (BGI) China BGI Workshop Xiaofeng Cao Chinese Academy of Science, Beijing China F4: Mobile Elements & Gene Silencing Yasushi Hiraoka Graduate School of Frontier Biosciences, Japan G4: Microbial Genetics Osaka University Yijun Ruan The Jackson Lab USA F1: Transcription & Chromatin Yik Ying Teo National University of Singapore Singapore B1: Integrating Omics and Policy for Grand Challenges: Healthy Ageing Yoshihide Hayashizaki RIKEN Omics Science Center Japan Lecture by Recipient of Chen Award for Distinguished Academic Achievement in Human Genetic & Genomic Research 2013 Yuan Tsong Chen Academia Sinica Taiwan C4: Therapies for Genetic Diseases Zilfalil Alwi Universiti Sains Malaysia Malaysia HUGO - Pan-Asian Population Genomics Initiative (PAPGI) I

All the information is correct as of 02 April 2013

30 Speakers’ Index

31 Speakers’ Bio

Andrew Allen Andrew E. Allen is an Associate Professor in the Microbial and Environmental Genomics Department at JCVI. His research focus is related to genome biology, and comparative and functional genomics of eukaryotic marine phytoplankton. Other areas of interest include molecular microbial ecology and metagenomics of eukaryotic marine microbes and bacteria, molecular and genome evolution, chemical and biological oceanography, microbial metabolism, and bioinformatics. Primary areas of interest are based on understanding the molecular basis of carbon (C), nitrogen (N), and iron (Fe) assimilation and metabolism in marine phytoplankton populations as well as the evolution and ecological relevance of molecular and regulatory and signaling/sensing mechanisms that mediate acclimation responses to nutrient and abiotic stress and control biotic interactions. Various ongoing physiological and functional genomics based wet-lab, computational, metagenomic, and metatranscriptomic research projects are centered on addressing hypotheses related to controls on the diversity and activity of marine microorganisms.

Fahd Al-Mulla Fahd Al-Mulla heads a Molecular Pathology Unit, which aims at delivering state-of-the-art diagnostic, targeted or tailored therapy and research facilities. Currently, his mandate is to build collaborative partnerships, invest institutional outputs, generate capital and resources, and promote public awareness as regards to the importance of scientifi c research outputs in resolving society’s problems and in expediting the development process. His research activities currently focus on identifying metastasis suppressor genes in colorectal cancer. This search led to the identifi cation of two metastasis suppressors, namely Carbony Reductase and Raf Kinase Inhibitory Protein, which he and his team characterized further recently. Fahd has spearheaded and initiated the Arabian Genome project and is in the process of whole genome and exome sequencing of 200 breast and colorectal cancers in young Arab patients. Fahd has recently been elected as Chair to the International Confederation of Countries Advisory Council of the Human Variome Project. He received his Medical Doctorate and Ph.D. from Glasgow University. He is a Fellow of the Royal College of Physicians of Edinburgh. Fahd Al-Mulla has extensive experience in Theranostics, and intellectual property development. He developed three state-of-the-art personalized medicine-directed laboratories with quality assurance and other certifi cation.

Zifalil Alwi Professor Dr. Zilfalil Alwi, is currently working as a Consultant Paediatrician and Clinical Geneticist, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan. He started his medical career as a medical offi cer in 1991 after completing his Bachelor of Medicine and Bachelor of Surgery (MBBS) degree at University of Dacca, Bangladesh. He joined Universiti Sains Malaysia (USM) School of Medical Sciences as a Trainee Lecturer in 1994, and was later awarded the Master of Medicine (MMed) in Pediatrics from USM. He then obtained a Masters degree (MSc) in Medical Genetics from University of Glasgow, United Kingdom and then continued his studies at University of Aston, United Kingdom, where he was awarded Doctor of Philosophy (PhD) in Pharmacogenetics. His research interest includes genetics of childhood Spinal Muscular Atrophy (SMN genes & NAIP gene), population genomics (genetic diversity of the Malay race), and genome wide studies on diseases common to the local population. He has published more than 80 publications in international and local journals and presented more than 100 papers at local and international conferences. He is a member of the Pan-Asia SNP research consortium which studies the genomic profi le of the Asian population. He is also the head of the Malaysian node of the Human Variome project, a global effort focused on the collection, collation and curation of genomic variations of all world population and for use globally. Professor Zilfalil is the Chief Editor of GENETIK, the offi cial Bulletin of the Genetics Society of Malaysia. He is also the Chief Editor of the Malaysian Journal of Paediatrics and Child Health. Professor Zilfalil is the founding President of the Malaysian Society of Human Genetics (MSHG) and the Deputy President of the Genetics Society of Malaysia (PGM).

Hiroyuki Araki Prof. Hiroyuki Araki started his career with the molecular analysis of genetic recombination in bacteriophage T7 as a PhD student in Hideyuki Ogawa’s lab. at Osaka University, Japan (1977-1982). After PhD study, Dr. Araki studied on fundamental DNA transactions using yeast plasmid pSR1 in Yasuji Oshima’s lab. at the same university as a staff (assistant professor: 1982-1992). During this period, Dr. Araki had an opportunity to study in Akio Sugino’s lab. at NIEHS/NIH, USA (1988-1990) and he showed that DNA polymerase epsilon participates in chromosomal DNA replication. He moved to Research Institute for Microbial Diseases at Osaka University as an associate professor (1992-1997) and then to National Institute of Genetics, Japan, as a full professor (1998- present). His group isolated the DPB11 gene as a suppressor of the mutations of DNA polymerase epsilon and the sld mutations (synthetic lethal mutations with dpb11). Using these genes and mutations, his group showed that GINS, Sld2, Sld3, Sld7 and Dpb11 proteins are required for chromosomal DNA replication, and revealed that the phosphorylation-dependent interactions

32 Speakers’ Bio

between Sld2, Sld3 and Dpb11 are essential and suffi cient reactions for CDK-dependent initiation of DNA replication. Prof. Araki’s group has continued to study on chromosome replication using budding yeast Saccharomyces cerevisiae.

Doris Bachtrog Doris Bachtrog is an Associate professor in the Department of Integrative Biology and the Center of Evolutionary Theoretical Biology at the University of California Berkeley. Bachtrog received her Ph.D. in 2002 and held a faculty appointment at University of California San Diego, USA, between 2005 and 2008. Her research encompasses the evolution of sex chromosomes in Drosophila, with a particular focus on processes and molecular mechanisms of Y degeneration and dosage compensation of the X.

Edward Bertram Dr Bertram Is Head of International Programs at the Australian Phenomics Facility, The Australian National University (apf.anu.edu.au) He has over 20 years research experience including his PhD from The University of Adelaide and Post-doctoral training at the University of Toronto, Canada. His research interests are to understand the role of genes involved in immunity. Working with Professor Chris Goodnow in the Immunogenomics Laboratory he has successfully managed numerous complex multi-million dollar research programs with international collaborators in the USA, Europe and China. Dr Bertram is the Australian representative on the International Mouse Phenotyping Consortium.(www.mousephenotype.org/).

Charlie Boone Dr. Boone received his Ph.D. in molecular biology in 1989 from McGill University in Montreal, Canada. He then did postdoctoral research in yeast genetics at the Institute of Molecular Biology, University of Oregon, in Eugene and, in 1993, founded his own research lab at the Institute of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, Canada. He is currently professor and Canada Research Chair at the University of Toronto’s Donnelly Centre. He has implemented an automated form of yeast genetic analysis to cross thousands of specifi c strains carrying precise mutations and to map yeast genetic interactions on a large scale. The global genetic interaction network maps a functional wiring diagram of the cell, clustering genes into specifi c pathways and revealing their functional connections.

Peer Bork Peer Bork, PhD, is senior group leader and joint head of the Structural and Computational Biology unit at EMBL, a European research organization with headquarters in Heidelberg where he also serves as strategic head of bioinformatics. In addition, he holds an appointment at the Max-Delbrueck-Center for Molecular Medicine in Berlin. Dr Bork received his PhD in Biochemistry (1990) and his Habilitation in Theoretical Biophysics (1995). He works in various areas of computational biology and systems analysis with a focus on function prediction, comparative analysis and data integration. His group has published more than 500 research articles in international, peer-reviewed journals, among them more than 50 in Nature, Science and Cell. According to ISI (analyzing 10 years spans), Dr. Bork was for many years the most cited European researcher in Molecular Biology and Genetics and is it now in Biochemistry and Biology. He is on the editorial board of a number of journals including Science and PloS Biology, and functions as senior editor of the journal Molecular Systems Biology. Dr Bork co-founded fi ve biotech companies, two of which went public. More than 30 of his former associates now hold professorships or other group leader positions in prominent institutions all over the world. He received the “Nature award for creative mentoring” for his achievements in nurturing and stimulating young scientists. He was also the recipient of the prestigious “Royal Society and Academie des Science Microsoft award” for the advancement of science using computational methods and obtained a competitive “ERC advanced investigator grant”.

Diana Bowman Dr. Diana Bowman is an Assistant Professor in the Risk Science Center and Department of Health Management and Policy, School of Public Health at the University of Michigan (2011-ongoing). To date her work has focused heavily on the regulation and public health impact of new technologies, including nanotechnologies, and is considered to be one of the leading commentators in the fi eld. More recently, her work has expanded to include the role of regulation and law in the public health domain more generally. A central question in this emerging body of work is how law and legal institutions – both within Australia, and in other jurisdictions - can be best be

33 Speakers’ Bio

shaped to save lives and reduce the burden of preventable harms. She has published over 50 peer-reviewed journal papers, 30 book chapters, and she has co-edited four books.

Diana holds a Bachelor of Science (Physiology) and Bachelor of Laws (Monash University, 2003), a PhD (Law) (Monash University, 2008), a Graduate Diploma of Legal Practice (College of Law, 2011) and is admitted to practice as a Barrister and Solicitor of the Supreme Court of Victoria (Australia) (2011).

Allan Bradley Professor Bradley completed his PhD in genetics at the University of Cambridge in Martin Evans’ laboratory establishing the foundation for making knockout mice. In 1984 Dr. Bradley demonstrated that embryonic stem (ES) cells could be transmitted through the germ line of mice and two years later reported that ES cells could be used to generate mice with mutations in endogenous genes.

Samir Brahmachari Prof. Samir Kumar Brahmachari pioneered functional genomics initiative in India and led the Indian Genome Variation Consortium Project as the founder Director of CSIRInstitute of Genomics and Integrative Biology. He was pivotal in extending this study to the Pan-Asia SNP project. He is recognized internationally for his outstanding contribution in proposing and elucidating the functional and structural signifi cance of repetitive sequences in genomes and its signifi cance in neuro-psychiatric disorders. He has more than 12 patents, 23 copyrights and over 150 research publications to his credit. He has been the member of the HUGO Council (2004-2011) and currently on Advisory Board of the X Prize in Genomics & U.S National Center for Biomedical Ontology (NCBO), Stanford University. As a member of expert group on Human Rights and Biotechnology Commission of United Nations, he has addressed the issues of unethical exploitation of genetic resources of the third world and has championed the concept of right of patients in benefi t sharing in the development of genomic medicine.

He is the recipient of large number of National and International awards and an elected member of all four academies of science and engineering in India. He also holds the Honorary Lifetime Professorship to the University of Delhi and the Joseph Austin McCartney & Ruth McCartney Hauck Named Visiting Professorship to the Mayo Clinic,Rochester, USA. He has received honorary D.Sc. degrees (Honoris causa) from fi ve different Indian universities. He is leading the Open Source Drug Discovery (OSDD) project and Pharmacogenomics for affordable healthcare program in India with global participation.

Matthew Brown Professor Matthew Brown is a clinician-scientist who trained initially in medicine and rheumatology in Sydney, Australia before moving in 1994 to Oxford, England to pursue research in genetics of bone and joint diseases, particularly ankylosing spondylitis. He was appointed Professor of Musculoskeletal Sciences at University of Oxford in 2004 and was Deputy Director of the University of Oxford Institute of Musculoskeletal Sciences from 2003-2005. In 2005 Professor Brown returned to Australia, taking a chair Immunogenetics at The University of Queensland Diamantina Institute in Brisbane. There he continues to work in genetics of common diseases, as well as running a specialist service for spondyloarthritis patients at Princess Alexandra Hospital. Professor Brown was appointed Director of The University of Queensland Diamantina Institute in 2011.

Maja Bucan Maja Bucan, Ph.D. is a Professor in the Department of Genetics and a Chair of the graduate group in Genomics and Computational Biology at the Perlman School of medicine, University of Pennsylvania (Philadelphia, USA) . She performed her PhD. Research at the European Organization for Molecular Biology in Heidelberg (Germany) and obtained PhD. Degree from University of Belgrade (Yugoslavia). After her postdoctoral research at the Imperial Cancer research Fund (London, UK) and the Wistar Institute (Philadelphia, USA), she joined the faculty at the University of Pennsylvania. Dr. Bucan’s research interests are in the area of functional genomics (or how to identify, on a large-scale, the function of genes identifi ed by the genome project). Her research interests also include the identifi cation of genes that underlie complex neurodevelopmental and psychiatric disorders (autism and bipolar disorder). Dr. Bucan is on the editorial board Mammalian Genome, Genesis and Genes, Brain and Behavior. She is a member of the Steering Committee of the AGRE (Autism Speaks). Dr. Bucan is a member of the Board of Scientifi c Counselors of NIH/NIMH.

34 Speakers’ Bio

Bruce Budowle Dr. Bruce Budowle received a Ph.D. in Genetics in 1979 from Virginia Tech. From 1979-1982, Dr. Budowle was a postdoctoral fellow at the University of Alabama at Birmingham, under a National Cancer Institute fellowship. In 1983, he joined the FBI Laboratory. Dr. Budowle has contributed to the fundamental sciences as they apply to forensics in analytical development, population genetics, statistical interpretation of evidence, and in quality assurance. He has published approximately 500 articles, authored or co-authored books on molecular biology techniques, electrophoresis, protein detection, and microbial forensics, made more than 600 presentations, and testifi ed in well over 250 criminal cases. Dr. Budowle has been directly involved in developing quality assurance (QA) standards for the forensic DNA fi eld. He was one of the architects of the CODIS National DNA database. His efforts also include counter terrorism, primarily in identifi cation of victims from mass disasters and in microbial forensics. In 2009 Dr. Budowle became Executive Director of the Institute of Applied Genetics and Professor in the Department of Forensic and Investigative Genetics at the University of North Texas Health Science Center at Fort Worth, Texas. His current efforts focus on the areas of human forensic identifi cation, microbial forensics, and emerging infectious disease.

Alastair Campbell Professor Alastair V Campbell is the Chen Su Lan Centennial Professor of Medical Ethics and the Director, of the Centre for Biomedical Ethics in the Yong Loo Lin School of Medicine of the National University of Singapore. Previously he was Professor of Biomedical Ethics, University of Otago and then Professor of Ethics in Medicine, University of Bristol. He is a former President of the International Association of Bioethics. He is a recipient of the HK Beecher Award, a fellow of the Hastings Centre, New York and of the Ethox Centre, University of Oxford, and elected Corresponding Fellow of the Royal Society of Edinburgh. His recent books include Health as Liberation (1996), Medical Ethics (with D.G. Jones and G. Gillet, 3rd Edition 2005), The Body in Bioethics (2009) and Bioethics: the Basics (in press, publication 2013). He was formerly chair of the Ethics and Governance Council of UK Biobank and Vice-Chair of the UK Retained Organs Commission. Professor Campbell is currently a member of the Bioethics Advisory Committee to the Singapore Government, of the National Medical Ethics Committee of the Ministry of Health as well as of the National Oversight Committee for Human-Animal Combinations in Stem Cell Research. He is also a Board Member of the Health Sciences Authority of Singapore and of the National Medical Research Council.

Benjamin Capps Benjamin joined the Centre for Biomedical Ethics, National University of Singapore, in 2008. He is a member of the HUGO Committee on Ethics, Law and Society; the Pro-Tem National Oversight Committee for Human Animal Combinations in Stem Cell Research (Ministry of Health, Singapore); and the Neuroethics Working Group of the Bioethics Advisory Committee (Singapore).

Benjamin was a Co-PI on the European Commission project, ‘EPOCH: The role of ethics in public policy- making: the case of enhancement’ (2010-12). He has coordinated a number of projects, including an ethics review for the UK’s Department of Trade and Industry Foresight project: Brain Science, Addiction and Drugs (2004-5); a commissioned report on ‘Public Interest’ and ‘Public Good’ as Applied to UK Biobank Access Decision-Making for the UK Biobank’s Ethics and Governance Council (2007-8); and an international multi-centre project on New Developments in Neuroscience and Genetics funded by the European Monitoring Centre for Drugs and Drug Addiction (2007-8).

He is an Honorary Associate at the ESRC Centre for Economic and Social Aspects of Genomics (Cesagen, Cardiff University, UK); and has been a Visiting Fellow at the National University of Singapore (2007 & 2008); University of Queensland (2008); and the Hastings Centre, New York (2005 and 2011).

Sue Celniker Dr. Celniker graduated from Pitzer College (1975) with a BA in Biology and Anthropology followed by two years at the City of Hope National Medical Center in the Department of Medical Genetics studying brain proteins from Huntington’s patients. After completing her dissertation at Caltech she received her PhD in Biochemistry from the University of North Carolina, Chapel Hill (1983). She accepted a NIH Postdoctoral Service Award (1983- 1986) to work with E. B. Lewis (Nobel Laureate 1995) conducting a genetic analysis of the bithorax complex, homeotic gene, Abdominal-B. She continued to work with Dr. Lewis until 1996 when she was hired as a Staff Scientist at Lawrence Berkeley National Laboratory (LBNL). In 2001 she was a co-recipient of the AAAS Newcomb Cleveland Prize for “The Genome Sequence of Drosophila Melanogaster”. Currently a Senior Staff Scientist and head of the Department

35 Speakers’ Bio

of Genome Dynamics at LBNL, she led the effort to characterize the Drosophila transcriptome for NHGRI’s modENCODE (Encyclopedia of DNA Elements) project. She is an advisor to FlyBase, (2007-present), on the editorial boards of BMC Genomics (2009-present) and G3 (2011-present) and a fellow of the American Association for the Advancement of Science.

Yuan Tsong Chen Professor Yuan-Tsong (Y-T) Chen received his MD degree from National Taiwan University (Taipei) and PhD from Columbia University (USA). He is currently a Distinguished Research Fellow of the Institute of Biomedical Sciences, Academia Sinica, Taiwan, and Tenure Professor of Pediatrics at Duke University Medical Center (USA).

Professor Chen is a physician/scientist, recognized for his work on human genetic disorders. His translational research leads to the development of now standard therapies for two devastating inherited metabolic diseases: a simple and effective cornstarch therapy for severe hypoglycemia in glycogen storage diseases and an enzyme replacement therapy, the fi rst ever treatment, for a debilitating, progressive and often fatal myopathy called Pompe disease. Professor Chen has also identifi ed the genetic basis of and developed DNA-based diagnosis for several major heritable diseases, and more recently, his team in Taiwan has uncovered genes/SNPs associated with drug-induced Stevens-Johnson syndrome and warfarin sensitivity. His latest pharmacogenomic studies of adverse drug reactions paved the way for personalized medicine by preventing drug toxicity with a gene test. Professor Chen is an elected member of Academia Sinica and of the Academy Sciences for the Developing World.

Semil Choksi Semil Choksi is a Senior Postdoctoral Fellow in Sudipto Roy’s lab at the Institute of Molecular and Cell Biology (Singapore) and is interested in the biology of cilia. He is currently using the zebrafi sh as a model system to identify novel human ciliopathy genes and to understand the functions of these genes during ciliogenesis. Semil did his PhD in Andrea Brand’s lab at the University of Cambridge (Cambridge, UK) studying how cell fate decisions are made, particularly in the developing Drosophila nervous system. He graduated with a dual degree in Genetics and Mathematics as a Foundation Fellow from the University of Georgia (Athens, USA).

Alan Cowman Professor Alan Cowman is the Head of the Division of Infection and Immunity at the Walter and Eliza Hall Institute of Medical Research in Melbourne, Australia. His work is aimed at understanding the function of proteins in Plasmodium falciparum, the causative agent of the most severe form of malaria in humans. Prof. Cowman received his undergraduate degree at Griffi th University and completed his PhD at the Walter and Eliza Hall Institute of Medical Research (WEHI) in the University of Melbourne. He received a C. J. Martin postdoctoral fellowship from the NHMRC for postdoctoral work in the University of California – Berkeley where he worked in the laboratory of Dr Gerry Rubin using Drosophila melanogaster as a model system. Following this he returned to WEHI and was appointed a Laboratory Head. His work is aimed at understanding the function of proteins in Plasmodium falciparum, the causative agent of the most severe form of malaria in humans. He has made contributions to understanding drug resistance, elucidating the mechanism of resistance to important antimalarials. His laboratory works on understanding how the malaria parasite invades human red cells and the remarkable remodeling of the host cell. He has over 270 publications in scientifi c journals and has received a number of awards including the Glaxo Award for Advanced Research in Infectious Diseases, Gottschalk Medal for Medical Science and Biology from the Australian Academy of Sciences, Boehringer-Mannheim Medal, Glaxo-Wellcome Australia Medal and the Howard Taylor Ricketts Medal from the University of Chicago. He is a Fellow of the Australian Academy of Science and the Royal Society.

Junbiao Dai Dr. Junbiao Dai received his Bachelors of Science from Nanjing University in 1993. He received his Master of Science in Biology in 2000 from Tsinghua Univeristy and his PhD in Molecular, Cellular and Developmental Biology in 2006 from Iowa State University. After receiving his PhD he was a post-doctoral fellow at the Johns Hopkins University School of Medicine. He is currently an Associate Professor in School of Life Sciences at Tsinghua University. His research interests lie in genetics, genomics and system biology using budding yeast as a model system, with emphasis on histone modifi cations, chromatin biology and synthetic biology. He’s one of the key members in synthetic yeast consortium and leading a team to synthesize the largest yeast chromosome, chromosome XII.

36 Speakers’ Bio

Caroline Dean Prof. Dean has been a project leader at the John Innes Centre since 1988. Her group has focused on understanding the molecular controls used by plants to judge when to fl ower. This has led into the characterization of pathways determining the need and ability to respond to prolonged cold. These converge on a co-transcriptional mechanism regulating Arabidopsis FLC, which involves FLC antisense transcripts and different chromatin modifi cation pathways. Quantitative modulation of this conserved co-transcriptional mechanism has contributed to adaptation of Arabidopsis to its wide geographical range. She served as President of the International Society of Plant Molecular Biology (1999-2001), Royal Society Council (2005-2007) and Associate Research Director of the John Innes Centre (1999-2008). She was elected to the Royal Society in 2004 and as a Foreign member of the US National Academy in 2008.

Mahmoud ElHefnawi Dr. Mahmud ElHefnawi is the biomedical informatics and Chemoinformatics group leader at the Center of Excellence for Advanced Sciences (CEAS) and Informatics and Systems Department, National Research Center (NRC). He is also a part-time faculty/ Researcher at the Egyptian-Japanese University for Science and Technology (EJUST), and has affi liations/ part-time participations/ consultations at the Youssif-Jamil Science and Technology Research Center (YJ-STRC) and was a part-time adjunct faculty at the American University in Cairo teaching graduate level courses in Bioinformatics. He was the Information Technology Institute (ITI) bioinformatics track coordinator and co-founder. He published several Bioinformatics International publications on topics including rational drug design, docking, and optimizing gene therapy for Infl uenza, Hepatitis C Virus (HCV), and different cancers, structural bioinformatics and motif prediction applications in virology, and applications of phylogenetic analysis. These were in reputed journals like Bioinformatics (Oxford University Press), PLOS1 (Public library of science), Journal of Molecular Recognition (JMR), European Journal of Medicinal Chemistry, Archives of Pharmaceutical Research and Virology Journal. He was the Principal Investigator for two STDF projects on structure-based drug design and docking of inhibitors for Hepatitis C virus, and optimizing gene therapy and siRNAs for Hepatitis C virus. He was also Copy for three projects at Youssif Jameel Science and Technology Research Centre (STRC), and American University in Cairo on bioinformatics, gene therapy, drug design, and nano-delivery.

Susan Gasser Prof. Susan M. Gasser is the director of the Friedrich Miescher Institute for Biomedical Research, a position she assumed in 2004. In parallel, she holds a professorship at the University of Basel. Before joining the FMI, Susan Gasser was Professor of Molecular Biology at the University of Geneva, and for the preceding 15 years, she led a research group at the Swiss Institute for Experimental Cancer Research.

Susan Gasser’s research interests focus on how nuclear organization impinges on mechanisms of repair and replication fork stability and on epigenetic inheritance of cell fate decisions, exploiting genetics and quantitative live fl uorescence imaging. She has authored more than 250 primary articles and reviews, and has received a number of awards for her work, including election to the Académie de France, the FEBS | EMBO Women in Science Award 2012, the INSERM International Prize in 2011, and both the Otto Naegeli Award and the Gregor Mendel Medal in 2006.

Michel Georges Michel Georges, DVM PhD, has devoted most of his career to the development and use of genomic tools for the forward genetic dissection of economically important traits in livestock. His team performed the fi rst genome- wide QTL scans in animals, identifi ed the double-muscling myostatin gene, discovered polar overdominance, discovered a mutation perturbing miRNA-mediated regulation of the myostatin gene as well as other regulatory mutations affecting growth and muscle mass, and uncovered a novel CNV-generating mechanisms involving circular intermediates. More recently, Michel Georges’ team has moved in human genetics and contributed to the identifi cation and analysis of risk loci for infl ammatory bowel disease. Michel Georges received the Wolf price in agriculture in 2007 and the Francqui Prize in biomedical sciences in 2008.

37 Speakers’ Bio

Mike Goddard Prof. Michael Goddard holds a joint appointment between the University of Melbourne and the Victorian Department of Primary Industries as Professorial fellow in animal genetics. After completing a BVSc and a PhD on a breeding program for guide dogs for the blind, he was appointed lecturer at the Tropical Veterinary Science at James Cook University followed by positions at Victorian Department of Agriculture and University of New England. His research is on the genetic improvement of livestock and on the genetic of complex traits. In 2001, with others, he published the fi rst paper on genomic selection and in 2010 helped explain the so-called missing heritability paradox in human genetics. In 2011 he was made a Fellow of the Australian Academy of Science.

Bin Han Professor Bin Han is the director of National Centre for Gene Research, of the Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences, and the deputy director of SIBS. Professor Bi Han received his Ph.D degree from the Sainsbury Laboratory, John Innes Centre, UK in 1992. He did his postdoctoral research in Department of Plant Sciences, University of Cambridge from 1993 to 1998. He has been working in the National Center for Gene Research, CAS since 1998. His research goals are to use large-scale genome sequencing for analyzing genetic variations to further understanding of rice gene functions in agronomic traits and for generating data and resources for rice research. He is currently focusing on re-sequencing wild rice and cultivated rice genomes for association mapping, phylogenetic analysis of the origin, evolution and development of cultivated rice varieties, comparative genome analysis of the indica and japonica subspecies, and rice functional genomics study. He also aims at cloning and functionally analysing genes controlling important agronomic traits.

Jill Harrison Dr Harrison is a new group leader at the University of Cambridge funded by fellowships from the Royal Society and the Gatsby Charitable Foundation. Her group aims to understand the developmental basis of two linked key innovations in plant evolution that permitted the radiation of vascular plants- branching and indeterminacy. To achieve this goal Dr Harrison and her group are taking a reverse genetic approach to identify regulators of stem cell function and proliferation in moss sporophytes. The approach necessitates passing through the gametophyte generation, which radiated independently to sporophytes, and Dr. Harrison’s group are therefore also addressing questions about the evolution and development of convergent branching morphologies.

Dr Harrison undertook her post-doctoral work in Professor Jane Langdale’s laboratory at the University of Oxford, and worked collaboratively with Professor Langdale and Professor Elliot Meyerowitz (Caltech) whilst she was a fellow at the Queen’s College, Oxford and before she moved to Cambridge.

Mitsuyasu Hasebe Professor Mitsuyasu Hasebe got Ph.D. at University of Tokyo in 1992 and was an Assistant Professor from 1992 to 1996 at Botanical Gardens, University of Tokyo. He stayed in Purdue Univefrsity as a visiting scientist from 1993 to 1995. In 1996, he moved to National Insitute for Basic Biology as an Associate Professor, and is a Professor of Department of Evolutionary Biology, National Institute for Basic Biology since 2000. He was awarded Young Scientist Prizes of Japan Science for Promotion of Science and the Japan Academy in 2005 and The Society Prize of Botanical Society of Japan in 2008. He is a Associate member of Scicen Council of Japan and is appointed to be a president of Society of Evolutionary Studies, Japan from 2014.

David Haussler David Haussler develops new statistical and algorithmic methods applied to comparative and high-throughput genomics data to explore molecular function, regulation, evolution, and disease process. He pioneered the use in genomics of hidden Markov models, stochastic context-free grammars, and discriminative kernel methods. As a collaborator on the international Human Genome Project, his team posted the fi rst publicly available computational assembly of the human genome sequence on the Internet in 2000 and subsequently developed the UCSC Genome Browser, still used extensively in biomedical research. His UCSC CGHub database holds NCI’s cancer genomics data. His group’s informatics work on cancer genomics provides a complete analysis pipeline from raw DNA reads through detection and interpretation of mutations and altered gene expression in tumor samples. He collaborates with clinical disease teams and TCGA to discover molecular causes of cancer and pioneer a new personalized, genomics-based approach to cancer treatment.

38 Speakers’ Bio

Haussler received a PhD in computer science from the University of Colorado, Boulder. A member of the National Academy of Sciences and the American Academy of Arts and Sciences and a fellow of AAAS and AAAI, he has won a number of awards, including the 2011 Weldon Memorial prize, the 2009 ASHG Curt Stern Award in Human Genetics, and the 2008 Senior Scientist Accomplishment Award from the International Society for Computational Biology.

Yoshihide Hayashizaki Yoshihide Hayashizaki received his M.D. and Ph.D. from Osaka University Medical School in 1982 and 1986, respectively. In 1992, he joined RIKEN, and was appointed Project Director for the RIKEN Genome Project in 1995. Since then he has taken a data-driven approach to analyze transcriptomes by developing unique technologies including a series of full-length cDNA technologies. With this approach, he has established large amount of full-length cDNA clone bank. This activity was followed by an international consortium, FANTOM (Functional Annotation of Mammalian Genome), originally to annotate a large number of cDNA and subsequently expanded to transcriptome and network analysis. FANTOM activities revealed that more than 70% of the genome – not just the ~1.5% fraction that are protein-coding exons – is transcribed as RNA and phenotype of cells are regulated by Basin Network. From 2008 he is leading the Omics Science Center as the director to advance our understanding of biological phenomena as systems at the molecular level.

Michael Hayden Dr. Michael Hayden is a Killam Professor of Medical Genetics at the University of British Columbia and Canada Research Chair in Human Genetics and Molecular Medicine. He is the Director of the Center for Molecular Medicine and Therapeutics (CMMT) in Vancouver, Canada; a genetic research center within UBC and located at the Child & Family Research Institute. He is also the Program Director of the Translational Laboratory in Genetic Medicine in Singapore, and was recently appointed as the President of Global R&D and Chief Scientifi c Offi cer at Teva Pharmaceuticals. Author of over 700 peer-reviewed publications and invited submissions, Michael focuses his research primarily on genetic diseases, including genetics of lipoprotein disorders, Huntington disease, predictive and personalized medicine. Dr. Hayden and his research group have identifi ed 10 disease-causing genes which includes the identifi cation of the major gene underlying high-density lipoprotein (HDL) in humans. He also identifi ed the fi rst mutations underlying Lipoprotein Lipase (LPL) Defi ciency and developed gene therapy approaches to treat this condition. Dr. Hayden is also the most cited author in the world for ABCA1 and Huntington Disease.

Yasushi Hiraoka Professor Hiraoka graduated from Faculty of Science, Kyoto University in 1980, and entered a graduate school with Professor Mitsuhiro Yanagida in Department of Biophysics, Graduate School of Science, Kyoto University. He was conferred Ph.D. from Kyoto University in 1985. After completion of the graduate program in 1985, he joined a joint group of Professors John W. Sedat and David A. Agard in University of California San Francisco, where he developed three-dimensional microscope technologies and studied special organization of chromosomes within the nucleus of Drosophila embryos. In 1991, he moved to Kansai Advanced Research Center, Kobe, Japan, where he started his own laboratory; he has been a professor in Osaka University since 2007. His group has studied dynamics of chromosomes and nuclear structures in fi ssion yeast and mammalian cells using live-cell imaging microscopy.

Martin Hirst Assistant Professor, Department of Microbiology and Immunology, Centre for High-Throughput Biology, University of British Columbia, Vancouver, BC Head of Epigenomics, Canada’s Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC

Dr. Hirst’s research is directed at understanding the role of epigenetics in cancer and investigating the therapeutic potential of interventions directed at epigenetic processes. He approaches this from an epigenomic perspective by combining innovative molecular biology and computational techniques with genome-wide detection platforms.

Dr. Hirst was one of the fi rst in the world to develop techniques for performing epigenome profi ling utilizing next generation sequencing platforms. Collaborating within a team of scientists and clinicians Dr. Hirst is applying these tools to profi le the genetic and epigenetic landscapes of normal and transformed human tissues and cells and has published 81 peer reviewed research articles in the area.

39 Speakers’ Bio

Dr. Hirst is actively engaged in the generation of reference epigenome maps of normal human cells and tissues as part of the CIHR and Genome BC funded Centre for Epigenomic Mapping Technologies and NIH Reference Epigenome Roadmap project. He is a member of the International Human Epigenome Consortium Scientifi c Steering Committee (ISSC) and the International Cancer Genome Consortium technologies working group.

Ary Hoffmann Ary Hoffmann is an ARC Australian Laureate Fellow at the University of Melbourne working in the areas of climate change adaptation and pest control. His group undertakes research on adaptation of organisms (particularly invertebrates) to environmental stresses including climate change and chemical pollutants, using fi eld sites in the Victorian mountains, in tropical rainforests and in wetlands around Melbourne. His group also develops integrated pest control options, investigates how landscape changes can be harnessed to provide pest control services, contributes to novel approaches for suppressing dengue mosquito vectors, and examines new ways to predict species distribution shifts under climate change. He has a strong interest in using genetics, genomics and invertebrate biodiversity for monitoring environmental health and developing resilience indicators for biodiversity and sustainable production.

Boon Peng Hoh Associate Professor Dr Hoh Boon Peng is currently affi liated with the Institute of Medical Molecular Biotechnology, Faculty of Medicine, Universiti Teknologi MARA. He received his PhD (Molecular & Population Genetics) in 2006 from Universiti Putra Malaysia, and immediately joined Human Genome Centre, School of Medical Science, Universiti Sains Malaysia until December 2008.

His major research interest is on population genetics of the indigenous populations from Peninsular Malaysia. Apart from that, he is also interested in the study of genetic susceptibility of complex diseases, in particular infectious diseases and cardiovascular diseases.

Tasuku Honjo Dr. Tasuku Honjo is Professor of Department of Immunology and Genomic Medicine, Kyoto University, and also Chairman of Board of Directors, Shizuoka Prefectural University Corporation. Dr. Honjo is well known for his discovery of activation-induced cytidine deaminase that is essential for class switch recombination and somatic hypermutation. He has established the basic conceptual framework of class switch recombination starting from discovery of DNA deletion (1978) and S regions (1980), followed by elucidation of the whole mouse immunoglobulin heavy-chain locus. Aside from class switching recombination, he discovered PD-1 (program cell death 1), a negative coreceptor at the effector phase of immune response and showed that PD-1 modulation contributes to treatments of viral infection, tumor and autoimmunity. For these contributions, Dr. Honjo has received many awards, including Imperial Prize (1996), Japan Academy Prize (1996), and Robert Koch Prize (2012). Honored by the Japanese Government as a person of cultural merits (2000). Elected as a foreign associate of National Academy of Sciences, USA in 2001, as a member of Leopoldina, the German Academy of Natural Scientists in 2003, and also as a member of Japan Academy in 2005.

Richard Johnson Rick Johnson is deeply engaged with next-generation S&T and innovation-based solutions to pressing global challenges. He works on: innovative pre-competitive research and collaborative models; the Knowledge Triangle linking science, education, and innovation; university-industry collaborations; building global scientifi c capacity for development; knowledge-based capital; and bio-economy issues.

His expertise includes synthetic biology/emerging life sciences, genomics, neuroscience, Big Data, healthy aging and Alzheimer’s, new life science and nanotechnology tools, data and platforms. Rick is a Board member of Life Sciences at the U.S. National Academy of Sciences (NAS); serves as the Co-Chair for the NAS synthetic biology project and the NAS Six Academy Initiative (China). He serves as the Chairman of the OECD/BIAC Science & Technology Committee and its Working Party on Biotechnology, Chairman of the Brown Biology & Medicine Council, a member of the MIT Corporation Visiting Committee, the Stanford BioFab and bioengineering initiative, the steering group for the new EU S&T Global Challenges Initiative, the Board of the Brown Institute on Brain Science, the U.S. Brain Activity Map and neuroscience strategies and the Advisory Council of the Global Coalition on Aging.

40 Speakers’ Bio

Rick is the CEO and founder of Global Helix LLC, a thought leadership and strategic positioning consulting fi rm for forward- looking companies, universities, public-private partnerships, and foundations. In addition to receiving his Juris Doctor degree from the Yale Law School, he received his M.S. from the Massachusetts Institute of Technology and his undergraduate degree with highest honors from Brown University.

Tetsuji Kakutani Tetsuji Kakutani is the Professor of Department of Integrated Genetics, National Institute of Genetics. He has been investigating biological roles and controlling mechanisms of DNA methylation in plants. In Arabidopsis, loss of genomic DNA methylation causes developmental defects, due to activation of transposable elements, and abnormal expression of cellular genes, which is often heritable over multiple plant generations. He is trying to understand these epigenetic phenomena in the framework of genetics. He serves as the editorial board member of journals, such as PLoS Genetics, and Chromatin & Epigenetics. He also serves as a Visiting Professor in Faculty of Science, University of Tokyo.

Kazuto Kato Kazuto Kato, PhD is Professor of Biomedical Ethics and Public Policy at the Graduate School of Medicine, Osaka University, Japan. He is also a Project Professor of the Institute for Integrated Cell-Material Sciences (iCeMS) at Kyoto University. He has a PhD degree in developmental biology from Kyoto University. After fi nishing postdoctoral research at the University of Cambridge with Professor John Gurdon, he started to work in the interface between bioscience and society, focusing on ethical and social issues of genomics and stem cell research. Prof. Kato is member of various international projects/academic societies such as Research Ethics Committee, RIKEN Center for Developmental Biology (CDB) and Ethics and Policy Committee, ICGC (International Cancer Genome Consortium). In 2010, he was appointed as a member of the Expert Panel on Bioethics of the Council for Science and Technology Policy (CSTP) of the Cabinet Offi ce, Japan. Currently, he leads a research group, the Research Unit of the ELSI (ethical, legal and social implications) of genomics, with the funding from the MEXT, Japan. The group examines the issues associated with latest genomics research such as personal genome analysis.

Narry Kim Narry Kim is a Professor at Seoul National University and the Director of Center for RNA Research at the Institute for Basic Science (IBS). She received her doctoral degree in 1998 from the University of Oxford where she studied the function of retroviral proteins. For her postdoctoral research, she worked on mRNA surveillance in the laboratory of Gideon Dreyfuss at the University of Pennsylvania until 2001. Her current research group at Seoul National University has been studying the biogenesis and function of microRNA (miRNA). By proposing a model for the canonical miRNA biogenesis pathway and by identifying several key factors such as Drosha, the lab has made major contributions to the current understanding of how miRNAs are created and processed in animal cells. More recently, she has been investigating the function and regulation of miRNAs in cancer and stem cells. Kim is a recipient of the L’Oreal-UNESCO Women in Science Award (2008) and the Ho-Am Prize (2009).

Tom Kirkwood Tom Kirkwood is Professor of Medicine and Associate Dean for Ageing at Newcastle University, having previously been Director of the Institute for Ageing and Health from 2004-2011. Educated in biology and mathematics at Cambridge and Oxford, he worked at the National Institute for Medical Research, where he formed and led a new research division, until in 1993 he became Professor of Biological Gerontology at the University of Manchester. His research is focused on the basic science of ageing and on understanding how genes as well as non-genetic factors, such as nutrition, infl uence longevity and health in old age. He is a Fellow of the Academy of Medical Sciences. He led the project on ‘Mental Capital Through Life’ within the recent Foresight programme on Mental Capital and Well-Being, and was Specialist Adviser to the House of Lords Science & Technology Select Committee inquiry into ‘Ageing: Scientifi c Aspects’. He has published more than 300 scientifi c papers and won several international prizes for his research. His books include the award-winning ‘Time of Our Lives: The Science of Human Ageing’, ‘Chance, Development and Ageing’ (with Caleb Finch) and ‘The End of Age’ based on his BBC Reith Lectures in 2001.

41 Speakers’ Bio

Staffan Kjelleberg Prof. Staffan Kjelleberg is internationally renowned for his research into bacterial biofi lm biology, chemically mediated interactions used by bacteria and higher organisms, and harnessing/controlling biofi lms for engineering and public health applications. His research programs focus on understanding the role of complex microbial communities in urban as well as in marine coastal ecosystems using complementary top-down meta-omics/ systems biology and bottom-up biofi lm mechanism approaches. Commonalities in biofi lm biology underpin broad-based translational research and applications.

Marcus Kronforst Marcus Kronforst is the Neubauer Family Assistant Professor in the Department of Ecology & Evolution at the University of Chicago. His research focuses on evolution and genetics, primarily using butterfl ies as a study system. He and the members of his lab apply a combination of molecular and population genetics, phylogenetics, behavioral studies, and fi eld research to address questions regarding the underlying genetic basis of wing patterning and the origin of new butterfl y species.

Kronforst has published papers describing various aspects of evolutionary genetics. He is also a member of an international collaboration that sequenced the genome of the butterfl y Heliconius melpomene. The paper describing this project, authored by the Heliconius Genome Consortium, was recently published in the journal Nature. Additional recent papers have been published in Science, PNAS, PLoS Genetics, and a number of other journals.

Kronforst earned his PhD in ecology, evolution, and behavior from the University of Texas at Austin in 2004. He received his BS in biology from the University of Miami in 1998. Prior to joining the University of Chicago, he held a fi ve-year Bauer Fellowship at Harvard University’s FAS Center for Systems Biology.

Dhavendra Kumar Professor Dhavendra Kumar is Consultant in Clinical Genetics at the University Hospital of Wales, Cardiff University, UK. He is the Visiting Professor to the Genomic Policy Research Unit, the University of Glamorgan, UK; Adjunct Professor to the Public Health Genetics Unit at the Chinese Capital Medical University, Beijing, China. He is a Fellow of the American College of Medical Genetics (FACMG) and as well as Royal Colleges of Physicians of London (FRCP); Ireland (FRCPI) & Paediatrics and Child Health (FRCPCH, UK). He serves Human Genome Organization as the Council Member and founding member of the HUGO Publications Committee. He has authored/edited ‘Genetic disorders of the Indian Subcontinent-Springer’ (2004); ‘Genomics and Clinical Medicine’ (2008); ‘Principles and Practice of Clinical Cardiovascular Genetics’ (2010); ‘Oxford Specialist Handbook on Inherited Cardiac Disease’ (2011) & ‘Genomics and Health of the Developing World’, (2012). In 2006, he established and developed a new biomedical journal (‘Genomic Medicine’-Springer) that transformed to ‘The HUGO Journal’) and continues as the Co-Editor. In 2011, he founded ‘Applied and Translational Genomics’ and leads this as the Editor in Chief (www.elsevier.com/atg). During the long career in medical genetics, Professor Kumar has engaged in undergraduate (MB and BSc) and postgraduate teaching (MSc, MD & PhD). He has organized a number of national and international professional conferences/ educational seminars. These have been widely acknowledged and appreciated at all professional levels. He founded and leads the ‘Indo- UK Genetic Education Forum’. He is passionate for the applications of genomics in medicine, public/population health and biotechnology/bioeconomy. He actively pursues promotion and collaboration for genetics/ genomics in healthcare and socio- economic benefi ts across the developing world through establishing professional networks of joint public-private partnership.

Eric Lai Dr. Eric Lai is Senior Vice President and Head of Pharmacogenomics at Takeda Pharmaceutical. Before he joined Takeda, he was the SVP and Head of Research and Development at Gen-Probe (now part of Hologic Inc) from 2009 – 2012 and before that he was the VP of Pharmacogenetics at GlaxoSmithKline for over 13 years. Dr. Lai received his Ph.D., from Columbia University and did his post-doctoral training at Dr. Lee Hood’s laboratory at CalTech in the early days of the Human Genome Project. He was the co-scientifi c leader of The SNP Consortium and the Severe Adverse Reaction Consortium. For almost 20 years, Dr. Lai has focused his efforts in the clinical application of Pharmacogenomics in drug development and drug safety. Dr. Lai discovered the association of HLA5701 to Abacavir hypersensitivity reaction and oversaw the clinical development and application of this test.

42 Speakers’ Bio

Poh San Lai Poh-San LAI heads the Human Molecular Genetics Lab and has been involved in the development of genetic tests for molecular analysis, prenatal diagnosis and genetic counseling of pediatric genetic diseases in Singapore. She set up the laboratory for molecular disorders such as Duchenne muscular dystrophy, retinoblastoma, hemophilia, spinal muscular atrophy, etc. in 1990. Her major research interests are in disease mechanisms and molecular therapeutics. She also has collaborative research projects on population and behavioral genetics. She was co- Chair, Policy & Ethics Review Board of the Pan-Asian SNP Initiative studying genetic diversity among Asian populations and ethnicities. She is currently co-Chair of the Pan-Asian Population Genomics Initiative (PAPGI), an international collaborative effort carrying out next-gen sequencing for whole genome analysis of population groups from Asia and Middle East. She serves as Reviews Editor of the Annals of Human Genetics and sits on the editorial board of a number of other journals. She is the current President of the Biomedical Research and Experimental Therapeutics Society of Singapore, and President-elect of the Asia-Pacifi c Society of Human Genetics. She also serves as Technical Assessor/Expert for the Singapore Accreditation Council which certifi es molecular diagnostic laboratories under the Singapore Laboratory Accreditation Scheme.

Tit Meng Lim Associate Professor Tit Meng Lim has been Chief Executive at the Science Centre Singapore (SCS) since January 2010. He graduated with a doctorate from the University of Cambridge in England after attaining a BSc (Hons 1) from the National University of Singapore (NUS).

He is concurrently an Associate Professor at NUS Department of Biological Sciences. He has held many leadership positions at NUS, including that of Vice Dean from 2003 to 2008. The past President of the Singapore Institute of Biology, He co-chairs the 2012 International Biology Olympiad Committee and is the President of the Singapore Association for the Advancement of Science (SAAS). He is a director in the Board of the Singapore Technologies Endowment Program and the Board of the Association of Science & Technology Centers (USA). He is the 1st Vice President of the Singapore National Academy of Science.

In 2008, he received the Outstanding Contributorship Award for the Ministry of Education (MOE) Science Research Program, for his services spanning 1988-2007. His other awards include the NUS Quality Service Award, 2007; and the MOE Service to Education Award 2009; and the Outstanding Science Entrepreneur Award 2010. Under his leadership, the Science Centre Singapore has won many accolades locally and internationally, including the coveted Singapore Tourism Board Award for Best Education Experience in 2010, 2011 and 2012 and the inaugural Museum Roundtable Award 2011 for Best in Education.

Klaus Lindpaintner Klaus Lindpaintner, MD, MPH, FACP is CSO and VP at Thermo Fisher Scientifi c, the world’s leading provider of innovation-driven analytical instruments, reagents, and services. Previously, he held senior positions at F. Hoffman-La Roche, where he spearheaded the company’s efforts in personalized health care and was responsible for the respective activities in translational research; at SDIX, a specialty antibody-focused biotechnology company; and on the faculty of Harvard Medical School. In addition, he is the principal at bio- banks consulting llc. Klaus has co-authored more than 250 scientifi c papers, and currently holds honorary and adjunct professorships at several academic institutions. He serves on numerous boards, working groups, and advisory panels for trade organizations, regulatory authorities and non-governmental organizations on issues related to the successful implementation and leverage of novel technologies in applied research, and, as a matter of personal interest, the ethical and societal impact of these technologies. Klaus graduated from Innsbruck University Medical School with a degree in medicine and from Harvard University with a degree in public health. He pursued post-graduate training and specialization in internal medicine, cardiology, and genetics in the US and Germany. He pursued clinical practice in these areas and academic research in molecular genetics and genetic epidemiology.

John Lis Dr, Lis received his B.S degree in Chemistry from Fairfi eld University, and his Ph.D. in Biochemistry from Brandeis University. His postdoctoral work at Stanford University focused on Drosophila gene regulation and was supported by a fellowship from the Helen Hay Whitney Foundation. Dr. Lis joined the faculty at Cornell in 1978. Dr. Lis uses the Drosophila heat shock genes as a model to study transcription regulation. In the early 1980s, his lab developed the fi rst version of the crosslinking “Chromatin IP” (ChIP) method for mapping specifi c proteins on DNA in vivo and used this UV-Chip and nuclear run-on assays to demonstrate that RNA Polymerase

43 Speakers’ Bio

II (Pol II) is regulated at an early elongation step called promoter-proximal pausing. The lab’s recent development of a highly sensitive, genome-wide nuclear run-on assay (GRO-seq) demonstrated that gene regulation at pausing is a general regulatory mechanism among metazoans including mouse ES cells.

Edison Liu Edison T. Liu, M.D., has been the president and CEO of The Jackson Laboratory since January 2012. From 2001 through 2011, he was the founding executive director of the Genome Institute of Singapore, which grew into one of the leading genomics research institutes globally, comprising 27 laboratory groups and a staff of 270.

Between 1997-2001, Dr. Liu was the scientifi c director of the National Cancer Institute’s Division of Clinical Sciences in Bethesda, Md., where he was in charge of intramural clinical translational science programs. From 1987 to 1996, he served on the faculty at the University of North Carolina at Chapel Hill. At UNC, Dr. Liu was the director of the Lineberger Comprehensive Cancer Center’s Specialized Program of Research Excellence in Breast Cancer, the director of the Laboratory of Molecular Epidemiology in the School of Public Health, chief of medical genetics, and the chairman of the Correlative Science Committee of the Cancer and Leukemia Group B, a national clinical trials group sponsored by the National Cancer Institute.

Dr. Liu’s own scientifi c research has focused on the functional genomics of human cancers, particularly breast cancer, uncovering new cancer-causing gene mutations and deciphering the dynamics of gene regulation on a whole-genome scale. He has authored over 300 scientifi c papers and reviews and is the co-author of two books.

Dr. Liu earned his B.S. in chemistry and psychology, as well as his M.D., at Stanford University. He served his internship and residency at Washington University’s Barnes Hospital in St. Louis, followed by an oncology fellowship at Stanford. From 1982 to 1987, he was at the University of California, San Francisco, where he completed postdoctoral fellowships in hematology and microbiology and also taught in the division of oncology.

Dr. Liu currently is serving a second elected term as board president of the Human Genome Organization. In addition, he sits on governing and advisory boards for numerous other scientifi c organizations, including the Foundation for the National Institutes of Health, the Association of American Cancer Institutes, ThermoFisher Scientifi c, Inc., and the Global Council on Genetics of the World Economic Forum.

Dennis Lo Dennis Lo is the Director of the Li Ka Shing Institute of Health Sciences and the Li Ka Shing Professor of Medicine at The Chinese University of Hong Kong. He received his undergraduate education from the University of Cambridge, and his Doctor of Medicine and Doctor of Philosophy degrees from the University of Oxford. His research interests focus on the biology and diagnostic applications of cell-free nucleic acids in plasma. In particular, he discovered the presence of cell-free fetal DNA in maternal plasma in 1997 and has since then been pioneering noninvasive prenatal diagnosis using this technology. He has received numerous awards and honours for his work. He is a Fellow of the Royal Society.

Ruth Loos Dr. Ruth Loos is Director of the Genetics of Obesity and Related Metabolic Traits Program, in The Charles Bronfman Institute of Personalized Medicine of the Icahn School of Medicine at Mount Sinai.

Her primary research interests focuses on the identifi cation of genes and genetic loci contributing to the risk of obesity and related metabolic traits. She has been involved in gene-discovery since 2005, when ‘genome-wide association’ was introduced and has since actively contributed to many consortia that use this approach to identify genetic loci for a large number of metabolic traits. Increasingly, her gene-discovery work also focuses on the identifi cation of low-frequency variants through the implementation exome-chip genotyping and sequencing projects, not only in individuals of white European descent, but also in those of African and Hispanic decent.

Ruth is a member of steering committee of the GIANT (Genetic Investigation of ANTropometric Traits) consortium, led by Professor Joel Hirschhorn and is actively involved in the many working groups. Ruth has set up GWAS consortia for body fat percentage, for leptin levels, and also for resting heart rate and physical activity. Furthermore, she has been involved in many large-scale GWAS consortia.

44 Speakers’ Bio

Besides gene-discovery, Ruth uses epidemiological methods to follow-up on established loci with the aim to elucidate the pathways through which they increase risk of metabolic disease. Furthermore, her work also assesses the public health implications of the established loci by examining their predictive value and their interaction with lifestyle factors such as diet and physical activity.

Previous positions Ruth obtained her PhD at the University of Leuven (Belgium) in 2001, after which she was a postdoctoral fellow at the Pennington Biomedical Research Center in Baton Rouge (LA, USA) in Dr Claude Bouchard’s Human Genetics laboratory. In July 2005, she joined the MRC Epidemiology Unit of the Institute of Metabolic Science in Cambridge (England) to become Group Leader of the Genetic Aetiology of Obesity Programme. She also lectured at Departments of Genetics and of Physiology of the University of Cambridge. Ruth joined the Mount Sinai School of Medicine in New York in December 2011, and remains an honorary member of the MRC Epidemiology Unit in Cambridge.

Jeantine Lunshof Jeantine E. Lunshof, PhD, Assistant Professor, is a philosopher and bioethicist, based at the Section Molecular Cell Physiology at VU University Amsterdam, The Netherlands. Her research is on the theoretical and normative aspects of pharmacogenomics, personalized medicine, and molecular technologies including biological engineering. She holds a prestigious Marie Curie Fellowship and currently works at Harvard Medical School, Department of Genetics, where she pursues a training and research program on systems biology-based concepts of health and disease, and on the development of a systems approach for ethics. In 2006, she developed the innovative model of “open consent” that forms the normative backbone of the Personal Genome Project.

Partha Majumder PARTHA P. MAJUMDER is currently the Director of the National Institute of Biomedical Genomics, Kalyani, India. He is also concurrently a Professor at the Indian Statistical Institute, and the Indian Institute of Science Education & Research, Kolkata, and an Honorary Professor at the Jawaharlal Nehru Centre for Advanced Scientifi c Research, Bangalore. His major scientifi c contributions are on human population genetics and genetics of complex human disorders. He has pioneered human genome diversity and genetic epidemiological studies in India. He has published over 250 papers. He is an elected Fellow of all the three science academies of India. He has served on the Board of Directors of the International Genetic Epidemiology Society (IGES), and was the founding Chair of the Ethical, Legal and Social Issues (ELSI) Committee of IGES. He is a Council Member of the Human Genome Organisation. He is a recipient of many awards and medals, including the TWAS (The Academy of Sciences for the Developing World, Trieste) Biology Prize – 2009, G.D. Birla Award for Scientifi c Research – 2002, Shri Om Prakash Bhasin Award in Biotechnology – 2001, Ranbaxy Research Award in Applied Medical Sciences – 2000, and the New Millennium Science Medal, ISCA & CSIR, Government of India, 2000.

Julie Makani Julie Makani is a Wellcome Trust Research Fellow and Senior lecturer at Muhimbili University http://www. muhas.ac.tz, the main clinical, academic and research centre in Tanzania. Dr Makani trained in Medicine (Tanzania) and Internal Medicine (UK), and completed her PhD in sickle cell disease (SCD). She is a Member of the Royal College of Physicians (UK) and research fellow, Oxford University www.ndm.ox.ac.uk/researcher/ juliemakani. In 2009 she was awarded the Archbishop Desmond Tutu Leadership Fellowship www.alinstitute. org for promoting biomedical science in Africa. She received the 2011 Royal Society Pfi zer Award for her work in using anaemia in SCD as a model of translating genetic research into health benefi t. In 2012 she was elected a Fellow of Tanzania Academy of Sciences.

With support from the Wellcome Trust, Muhimbili has established framework for healthcare and genomic research with a focus on SCD. SCD is recognised as a ‘perfect model’ to test the paradigm of translating genome-based knowledge into health benefi ts; it is a monogenic disorder, shows considerable phenotypic variation and public health signifi cance. Tanzania intends to use SCD as a model to establish solutions that are locally relevant and globally signifi cant, illustrating those effective, global partnerships can achieve signifi cant advances in health and biomedical science.

45 Speakers’ Bio

Andrea Manica Andrea Manica obtained his PhD from the University of Cambridge, where he is now a Senior Lecturer in the Department of Zoology. His work on human genetics has mostly focussed on using spatially explicit models to reconstruct the out-of-Africa expansion of anatomically modern humans. He has also worked on the spatial spread of human diseases, such as malaria and Helicobater pylori, as well as on horse domestication. He has recently also quantifi ed the role of African population structure in affecting estimates of hybridisation with Neanderthal.

Hisao Masukata Professor Masukata is the Chair of the Department of Biological Sciences, Graduate School of Science, Osaka University, Japan in the 2013 academic year. He has been the Professor of Genetics since 1999. He was graduated from Osaka University and obtained a PhD degree in1980. He had his postdoctoral research at the National Institutes of Health, MD, USA, investigating the mechanism of replication initiation of bacterial plasmid ColE1 in Dr. J. Tomizawa’s Lab. In 1987, he returned to Japan as an assistant professor at Nagoya University, and started the project on investigation of human replication origins. Through an associate professor at Nagoya, he moved to Osaka University in 1995.

Professor Masukata has been interested in the mechanisms of DNA replication. He has been using a model organism, fi ssion yeast Shizosaccharomyces pombe, to study the regulatory mechanism of initiation. He took interested in the phenomena that the individual replication origin fi res under a pre-fi xed program. His group found that the conserved heterochromatin protein HP1 promotes “early replication” at the heterochromatin in the pri-centromeric and the silent mating type locus, while the sub- telomeric heterochromatin replicates very late in S phase (Hayashi et al, Nat. Cell Biol, 2009). Recently they discovered that the telomere-binding proteins play essential roles in the control of replication timing at the internal replication origins and in sub-telomeres (Tazumi et al, Genes Dev, 2012).

John Mattick Professor Mattick is the Director of the Garvan Institute of Medical Research. He did his undergraduate training at the University of Sydney and his PhD at Monash University. He subsequently worked at Baylor College of Medicine in Houston, the CSIRO Division of Molecular Biology in Sydney, and the University of Queensland, where he was the Foundation Director of the Australian Genome Research Facility and the Institute for Molecular Bioscience. He has also spent periods as a visiting research fellow at the Universities of Cambridge, Oxford, Cologne and Strasbourg.

Professor Mattick has published over 250 scientifi c papers His awards include the Biotechnology Medal of the Australian Biochemical Society, Honorary Fellowship of the Royal College of Pathologists of Australasia, the inaugural Gutenberg Professorship of the University of Strasbourg, the Centenary Medal of the Australian Government, the 2011 International Union of Biochemistry and Molecular Biology Medal, Foreign Membership of the European Molecular Biology Organisation, Fellowship of the Australian Academy of Science and the HUGO 2012 Chen Award for Distinguished Achievement in Human Genetic and Genomic Research.

Mark McCarthy Prof McCarthy is Robert Turner Professor of Diabetes at the University of Oxford. The major focus of his research has been in the use of human genetics to provide insights into the biology of type 2 diabetes and related conditions. He was a core member of the Wellcome Trust Case Control Consortium, leading the genome-wide association analyses for T2D and obesity conducted within the WTCCC. He went on, with colleagues in the US and elsewhere to play a leading role in GWA meta-analysis efforts for T2D (DIAGRAM), anthropometric traits (GIANT), glycemic phenotypes (MAGIC), and early growth (EGG). He is now playing a central role in two large efforts to use next-generation sequencing to defi ne the contribution of lower-frequency and rare variants to disease predisposition (via the GOT2D and T2DGENES consortia). His group is increasingly pursuing fi ne-mapping, genomic and functional studies to defi ne the biological mechanisms through which these associated variants impact on diabetes risk. Prof McCarthy is a member of HUGO Council, and serves on the editorial boards/panels of several journals including PLOS GEnetics, Human Molecular Genetics and eLIFE.

46 Speakers’ Bio

David Melzer Professor David Melzer is Professor of Epidemiology and Public Health at the University of Exeter Medical School in the UK, and a public health physician. His research focuses on age related chronic disease.

In the last decade, working closely with Dr Luigi Ferrucci (Scientifi c Director of the US National Institute on Aging) his group has used genomic arrays in human cohort studies of aging to identify genes and pathways most closely associated with key traits and diseases. Follow-up studies have aimed to bridge the gaps with laboratory fi ndings. Notable outputs include the fi rst evidencein a human population of splice ratio changes with advancing age (Aging cell, 2011). His group also produced the fi rst longitudinal analysis of low vitamin D levels, showing association with later cognitive impairment in older people (Archives of Internal Medicine, 2010). He also led the fi rst studies linking environmental endocrine disrupting chemical BPA to adult disease in the general population (JAMA, 2008) with fi rst longitudinal study (Circulation, 2012), with follow-up work identifying an alternative estrogen receptor as a BPA target in-vivo.

Prof. Melzer has received research grants from the US National Institutes of Health, the UK Wellcome Trust, British Heart Foundation, the Medical Research Council and other funders.

John Mulvihill John J. Mulvihill is a medical geneticist and pediatrician with 20 years’ experience at the National Cancer Institute and the Interinstitute Medical Genetics Program of the US National Institutes of Health. In 1990, he founded the Department of Human Genetics of the University of Pittsburgh and, in 1998, accepted the Kimberly V. Talley Chair in Genetics, University of Oklahoma. A graduate of the College of the Holy Cross, Dartmouth Medical School and the University of Washington School of Medicine, he was on the house staffs at the University of Washington Hospital and the Johns Hopkins Hospital. Dr. Mulvihill’s research has focused on the genetics of human cancer, especially late reproductive and genetic effects. He has written 333 scientifi c articles and edited 15 monographs and syllabi and is a member of the Scientifi c Advisory Committee of the Radiations Effects Research Foundation, Hiroshima and Nagasaki, the Board of Directors of the American College of Medical Genetics, the ELSI Committee of the International Genetic Epidemiology Society, and the Ethics Committee of HUGO. He has had National Institutes of Health and other national research grants for neurofi bromatosis, pancreatic cancer, fetal alcohol syndrome, and the Oklahoma Native American Research Center for Health. Mentoring is a major commitment.

Huck Hui Ng Professor Huck-Hui NG is the Executive Director of the Genome Institute of Singapore (GIS).

Huck-Hui NG graduated from the National University of Singapore and obtained his PhD from the University of Edinburgh. He spent the next few years working at the Harvard Medical School as a Damon Runyon-Walter Winchell research fellow.

His lab is studying gene regulation in stem cells. Specifi cally, his group is using genome wide approaches to dissect the transcriptional regulatory networks in embryonic stem cells and to identify key nodes in this network. More recently, his lab has begun to investigate the reprogramming code behind the induction of pluripotency in somatic cells. His research work has earned him several prestigious national accolades including the Singapore Youth Award 2005, the National Science Award 2007 and the President Science Award 2011.

Frank Nicholas Frank Nicholas is Emeritus Professor of Animal Genetics at the University of Sydney. After obtaining his PhD at the University of Edinburgh, he lectured and conducted research for 34 years in the Faculties of Veterinary Science and Agriculture at the University of Sydney. He is the author of “Veterinary Genetics” (1987), “Introduction to Veterinary Genetics” (1996, 2003, 2010) and co-author (with Jan Nicholas) of “Charles Darwin in Australia” (1989, 2002, 2008). With the late Professor John Edwards, he established the Oxford Grid project (http:// oxgrid.angis.org.au/), which provides visual images of the conservation of synteny between species. He is the creator and chief curator of Online Mendelian Inheritance in Animals (OMIA; http://omia.angis.org.au), which is modelled on, and complementary to, Online Mendelian Inheritance in Man (OMIM).

47 Speakers’ Bio

Patsy Nishina Dr. Patsy M Nishina, Professor at The Jackson Laboratory, focuses on understanding the molecular mechanisms underlying retinal function and disease through the use of mouse models. Her laboratory is particularly interested in diseases affecting photoreceptor outer segment development, retinal pigmented epithelial maintenance, and in the role of microglia in retinal pathologies.

Unique ocular mouse resources are generated by screening for spontaneous mutations in the large repository of mice at The Jackson Laboratory (e.g. Eye Mutant Resource directed by Dr. Bo Chang), by screening chemically mutagenized mice (e.g. Translational Vision Research Models program), and by genetic manipulation (e.g. phenotyping for ocular diseases in mice generated by the KOMP2 program). Additionally, many of the tools used by ophthalmologist to examine human eyes have been miniaturized and adapated to identify aberrant phenotypes in mouse eyes. All of the mouse models identifi ed in her program and phenotyping protocols are available to the scientifi c research community.

While the mainstay of Dr. Nishina’s program is discovery research using the mouse models described above, these are complemented by microscopy, by marker analyses, and by biochemical/physiological studies. Moreover, genetic modifi er screens and sensitized mutagenesis are additional approaches that have been implemented to elucidate the function and pathways through which retinal molecules act and lead to disease.

Jenni Nordborg Jenni Nordborg, PhD, is Head of the Bioentrepreneurship Department, Health Division at VINNOVA. She has since 2006 been active in strategic innovation policy development and implementation within health and life science at VINNOVA.

Prior to the current position she was Programme Director of the SME support programme at VINNOVA and responsible for strategic development of innovation support for growth in SMEs. This encompasses development of new SME support instruments in collaboration with other national agencies. She has coordinated a European collaboration to develop and implement policy for higher growth in SMEs and has been appointed National Expert in the FP7 Capacities Research for the Benefi t of SMEs Programme Committee within the European Commission.

Dr. Nordborg has a research background in Solid State Chemistry and a PhD from Chalmers University of Technology. She has during her research period worked at several international high-level research facilities such as Tsukuba, Japan and Brookhaven Ntl Labs, USA and been visiting scientist at UWA, Perth, Australia. She made part of her Master thesis work at Toshiba R&D Center in Kawasaki, Japan.

Dr. Nordborg has experience in start-up and management of a new high-tech business and more than 10 years of experience in management of high-level international collaboration projects. Dr. Nordborg has worked as Marketing and Sales Director in a growing new business selling new innovative lasers for biomedical analysis and e.g. set-up a global network of distribution channels and established a growing customer basis. She has experience in board level positions both in private companies and governmental organizations.

Mariusz Nowacki Mariusz Nowacki is a professor of biology at University of Bern in Switzerland. He received his PhD from Ecole Normale Supérieure in Paris in 2005, and worked as post-doctoral fellow at Princeton University until 2010. His lab focuses on the mechanisms of RNA-mediated epigenetic inheritance in eukaryotic cells. Using ciliated protozoa as model organisms gives the opportunity to study the very complex epigenetic phenomena accompanying the whole-genome scale developmental DNA rearrangements, where the parental cell must provide suffi cient amount of information in order to produce a fully functional progeny. This involves a RNA- mediated comparison of the developing zygotic genome with the maternal somatic genome in an extraordinarily massive and precise manner.

48 Speakers’ Bio

Svante Pääbo The Gruber Foundation proudly presents the 2013 Genetics Prize to Svante Pääbo for pioneering the analysis of ancient DNA. Prior to Dr. Pääbo’s research, scientists vacilliated between defeatist and overly exuberant views of the feasibility of sequencing DNA older than a few hundred years. Through painstaking development of new methods for handling, extracting DNA from, and sequencing ancient samples, Dr. Pääbo determined whole-genome sequences from fossils as old as 80,000 years. The ancient DNAs analyzed included the genomes of Neandertal and Denisova, extinct relatives of contemporary humans. Dr. Pääbo’s studies established that although early humans and these extinct relatives were contemporary inhabitants of Europe and Asia, they last shared a common ancestor hundreds of thousands of years ago. Strikingly, Dr. Pääbo’s research demonstrated that certain segments derived from Neandertal and Denisovan genomes are found in modern humans, providing evidence of early interbreeding of these populations. His studies were a technological tour de force, opened new windows into the distant past, and provided fundamental insights into our origins.

Raghu Padinjat Dr. Raghu Padinjat trained as a physician and subsequently completed a Ph.D in Molecular Biology from that Tata Institute of Fundamental Research. After post-doctoral training at the University of Cambridge, he was Principal Investigator at the University of Cambridge and the Babraham Institute, Cambridge for several years. In 2010 he took up his current position as Associate Professor at the National Centre for Biological Sciences, Bangalore INDIA. Dr. Padinjat has a long-standing interest in understanding intracellular signalling pathways, especially phosphoinositide signalling that controls fundamental cell biological processes in metazoans. His principal experimental model is the fruit fl y Drosophila where he uses a combination of genetics and cell biology to uncover novel principles of cell signalling.

Marisa Papaluca Internal Medicine specialists, Marisa joined the EMA in late 1994 and occupied scientifi c and managerial positions in the EMA Unit for Human Medicines Development and Evaluation.

Deputy Head of Quality up to 2002 and of the Effi cacy and Safety Sectors up to 2009, Marisa is currently Head of the Section for Scientifi c Support and Projects providing scientifi c support to the Agency core activities in transversal and multidisciplinary areas such as clinical trials statistical methodology, raw data analysis, non- clinical drug development, pharmacogenomics and nanotechnology.

The Section is also in charge of the EMA the Innovation Task Force, reference group at EU and international level for innovative pharmaceuticals developments with current increasing activities on novel clinical trials designs, genomic biomarkers, combined products, nanomedicines, and synthetic biology.

The section also runs the Business Pipeline activities contributing to the Agency’s preparedness toward the upcoming Marketing Authorisation submissions.

Walther Parson Walther Parson received his doctorate in forensic molecular biology in 1999 and holds an associate professorship at the Institute of Legal Medicine, Innsbruck Medical University, Austria. He set up the Central National DNA Database Laboratory of the Austrian Federal Ministry of the Interior and is Austrian representative of the European Network of Forensic Sciences (ENFSI) DNA Working Group and the European DNA Profi ling (EDNAP) Group. He serves as advisor on international boards and steering committees. Since 2009 WP is an elected member of the National Academy of Sciences Leopoldina. WP has authored more than 200 peer-reviewed articles in the past ten years in forensic, medical and population genetics. WP was repeatedly consigned to handle international requests on DNA fi ngerprinting such as the DNA identifi cation of the Asian Tsunami-victims, the remains of the Russian Tsar family or historical cases such as the putative Mozart skull and the Friedrich Schiller Code.

49 Speakers’ Bio

Linda Partridge Professor Linda Partridge works on the biology of ageing. Her research is directed to understanding both how the rate of ageing evolves in nature and the mechanisms by which healthy lifespan can be extended in laboratory model organisms. Her work has focussed in particular on the role of nutrient-sensing pathways, such as the insulin/insulin-like growth factor signalling pathway, and on dietary restriction. Her current work is directed to developing pharmacological treatments that ameliorate the human ageing process to produce a broad-spectrum improvement in health during ageing. She is the recipient of numerous awards, including giving the Royal Society Croonian Lecture in 2009 and a DBE for services to science. She is a Fellow of the Royal Society, the Academy of Medical Sciences, the European Academy of Sciences and the American Academy of Arts and Sciences. She is the Director of the Institute of Healthy Ageing at the University College London, as well as founding director of the new Max Planck Institute for Biology of Ageing in Cologne.

Len Pennacchio Len Pennacchio is a Senior Staff Scientist in the Genomics Division at Lawrence Berkeley National Laboratory (LBNL) and Deputy Director of the DOE Joint Genome Institute. Dr. Pennacchio has an extensive background in mammalian genetics and genomics as well as with DNA sequencing technologies and their application to address outstanding issues in both the medical and energy sectors. He received his Ph.D. in 1998 from the Department of Genetics at Stanford University. During his graduate studies, he worked with Richard Myers to uncover the genetic cause of a rare form of human epilepsy and subsequently generated one of the fi rst mouse models for this common human disease. In 1999, he joined Edward Rubin’s laboratory as an Alexander Hollaender Distinguished Fellow at LBNL where he identifi ed a novel apolipoprotein involved in human and mouse triglyceride metabolism. He has authored over 100 peer-reviewed publications and in 2007 received the Presidential Early Career Award for Scientists and Engineers (PECASE) from the White House for his contributions to the Human Genome Project and understanding mammalian gene regulation in vivo.

Maude Phipps Maude Elvira Phipps is Professor of Human Molecular Genetics at the Jeffrey Cheach School of Medicine and Health Sciences in Monash University (Sunway Campus). Her early research focused on antibiotic resistance and virulence factors in pathogenic bacteria at the University of Malaya and she later read molecular pathology at the University of Cambridge, United Kingdom. Whilst at the Faculty of Medicine, University of Malaya, Maude contributed substantially to the development of biomedical sciences, specialist training and research programmes. Together with colleagues, she began researching molecular genetics of autoimmune diseases and transplantation mechanisms, in collaboration with researchers the Oxford Transplant Centre and the University of Western Australia. These efforts resulted in the setting up of a new service for molecular immunogenetics and transplantation matching at the University of Malaya Medical Centre. Her current research focuses on the genomics of Homo sapiens to answer questions related to our evolution, migration and health. Apart from translational medicine, she is a keen advocate of bioethics education and research programmes in Asia, especially in rapidly developing countries which have placed biotechnology high on their development agendas. She has published extensively in international journals, has been an invited speaker at numerous international meetings and supervised many graduate students over the years. Maude is an active member of the Human Genome Organization (HUGO), the Asian Bioethics Association, the Genetics Society of Malaysia and the Malaysian Society of Molecular Biology and Biotechnology.

Ana Pombo Ana Pombo studied Biochemistry, at University of Lisbon, before moving to Oxford (UK) in 1994 to read for a DPhil with Peter R. Cook, at the Sir William Dunn School of Pathology, working on Transcription Factories. She was awarded a Hayward Junior Research Fellowship (Oriel College) in 1997 and a Royal Society Dorothy Hodgkin Fellowship in 1998. She moved to the MRC Clinical Sciences Centre in London (UK) in 2000, where she has led her research group on Genome Function, working on gene expression and genome architecture in mammalian systems. In 2007, she was awarded the Robert Feulgen Prize (Society of Histochemistry) for her contributions to imaging nuclear architecture and the development of cryoFISH. In 2011, Ana was promoted to Professor in Cell Biology at Imperial College London, and in 2013 she has relocated her laboratory to the Berlin Institute for Medical Systems Biology, Max Delbrueck Centre, in Berlin, Germany.Her laboratory currently investigates the regulation of RNA polymerase II in mammalian stem cells and neuronal and cardiac lineages, and its roles in genome architecture, using both single cell and genome-wide approaches.

50 Speakers’ Bio

Sorina Popescu Dr. Sorina Popescu is an Assistant Professor at The Boyce Thompson Institute for Plant Research (Ithaca, NY, USA) and Adjunct Assistant Professor in the Departments of Plant Biology and Plant Pathology and Plant- Microbe Interaction, at Cornell University, since 2009. Previously, she completed a PhD in Plant Biology at Rutgers University (New Brunswick, NJ, USA) and a four years postdoctoral training at Yale University (New Haven, CT, USA). Dr. Popescu studies signal transduction mechanisms in plants. A key area of interest in her lab is identifying components of the signal transduction pathways activated during plant stress with the goal of understanding the mechanisms of stress response at the cellular and organism/system levels. She employs a multidisciplinary approach that combines molecular and cell biology with bioinformatics and predictive mathematical modeling. Active research projects in her lab address various aspects of the stress response starting with the early events at the cellular membrane that are important in the perception and recognition of the stress factors, to later events critical in propagating the signal throughout the cell and regulating cellular output.

Peter Preiser Peter Preiser is a professor of Molecular Genetics & Cell Biology and Associate Provost (Graduate Education) at the Nanyang Technological University (NTU). He obtained his PhD in Biology from the University of Delaware, USA, in 1981. After his postdoctoral appointment at Worcester Foundation for Experimental Biology, USA, he joined London’s National Institute for Medical Research as a Senior Research Scientist. In 2003 he left London to join NTU’s School of Biological Sciences (SBS). He has extensive experience in malaria biology and developing quantitative proteomic approaches along with transcriptional profi ling to understand complex biological processes in relation to host parasite interaction. He is also an active member of the infectious disease inter- disciplinary research group with the Singapore-MIT Alliance for Research and Technology (SMART) and has collaborated with top research institutes around the world and has published over 60 top-quality international journal papers.

Molly Przeworski Molly Przeworski is a Professor of Human Genetics and of Ecology and Evolution at the University of Chicago. She received a BA in Mathematics from Princeton University and a PhD in Evolutionary Biology from the University of Chicago (with Richard Hudson). After a postdoctoral fellowship at the University of Oxford (with Peter Donnelly), she spent time at the Max Planck for Evolutionary Anthropology in Leipzig, and at Brown University. She has been at the University of Chicago since 2005 and, in 2009, became a Howard Hughes Early Career Scientist. Her work analyzes patterns of genetic variation to learn about the genetic basis of human adaptations, and to understand the causes and consequences of variation in recombination among individuals and species.

Nadia Rosenthal Professor Rosenthal is Founding Director of the Australian Regenerative Medicine Institute at Monash University and Scientifi c Head of EMBL Australia. She also holds a Professorship of Cardiovascular Science at Imperial College London. She obtained her PhD from Harvard Medical School, where she later directed a biomedical research laboratory, serving for a decade at the New England Journal of Medicine as editor of the Molecular Medicine series. From 2001-2012 she established and headed the EMBL Mouse Biology Unit in Rome. She is an EMBO member, and was awarded the Ferrari-Soave Prize in Cell Biology and Doctors Honoris Causa from the Pierre and Marie Curie University in Paris and the University of Amsterdam. She is Editor-in-Chief of the journal Differentiation. Her research focuses on the role of growth factors and stem cells in tissue regeneration, with over 160 primary research articles and prominent reviews in high impact international journals, and sponsored research funding from major pharmaceutical companies. Professor Rosenthal is an NH&MRC Australia Fellow.

Steve Rozen Steve Rozen’s laboratory works in the areas of bioinformatics, human genetics, and cancer genomics. A major focus is harnessing the power of massively parallel, next-generation sequencing to discover the causes of cancer and behavioral disorders. Rozen received a Ph.D. in computer science from New York University and then moved to Whitehead Institute, where he worked on sequencing the human Y chromosome and on studying the effects of Y-chromosomal mutations. His bioinformatics work has included building and integrating software to support biological research, notably the widely used Primer3 software. He co-directed a Cold Spring Harbor Laboratory course on Writing Software for Genome Research.

51 Speakers’ Bio

Yijun Ruan Dr. Yijun Ruan is currently Professor and Director, JAX Genomic Sciences with The Jackson Laboratory for Genomic Medicine, located on the campus of the University of Connecticut Health Center in Farmington, Connecticut. His current research interest is to elucidate the structure and dynamics of functional DNA elements in the human genome. His strategy is to develop innovative genomic technologies and apply them to address fundamental questions pertinent to human disease. To this end, Dr. Ruan’s main focus is on genome functions and genome structural variations in cancer and stem cells. He has also been interested in exploring metagenomic approaches to understand microbial populations involved in human health.

Vinod Scaria Vinod Scaria is a scientist at the CSIR Institute of Genomics and Integrative Biology. He is a clinician turned computational biologist with research interests in translational genomics and genome informatics. He is interested in understanding the function and organisation of non-coding RNAs, and how genomic and epigenomic variations could potentially impact them. He is also involved in creating novel methods and resources for analysis and annotation of genomes and understanding the functional impact of genomic variations. He has used adopted novel and creative strategies like the use of social media and participation of large number of undergraduate students in collaborative projects to accelerate genome annotation and co-creation resources for genome annotation.

Jae-Gook Shin Dr. Jae-Gook Shin is currently a Professor and Chairperson in the Department of Pharmacology and Clinical Pharmacology, Director of Pharmacogenomics Research Center and serving as an Associate Dean for Research Affairs in Inje University College of Medicine and affi liated Inje University Paik Hospitals, Korea. He is also serving as Director of Clinical Trial Center at Inje University Busan Paik Hospital, Busan, Korea.

He received a PhD degree in Pharmacology from Seoul National University School of Medicine in 1992 and a MD degree from Inje University College of Medicine, Busan, Korea. He has his postdoctoral training in the Division of Clinical Pharmacology, Georgetown University Medical Center in Washington DC, USA from 1997 to 1999.

In 2003, he established Pharmacogenomics Research Center from the governmental fund entitled “National Research Lab. for Pharmacogenomics” in his university and also has been awarded to be a director of Bio-Marker Research Center for Personalized Therapy (BMRC) funded by Korean Ministry of Education, Science and Technology in 2007. He is serving as a founding coordinator of Asian Network for Pharmacogenomics Research (ANPR) initiated since 2008.

He has published more than 190 original articles in the area of clinical pharmacology including personalized medicine based on pharmacogenetics and genomics, DM/PK and drug interaction, PK/PD modeling etc. He is also serving as an Executive Editor for British Journal of Clinical Pharmacology, Associate Editor of Frontiers in Pharmacogenetics and Pharmacogenomics, and editorial board member of several journals including, Pharmacogenetics and Genomics, Pharmacogenomics, and Personalized Medicine.

Kazuo Shinozaki Kazuo Shinozaki is Director of RIKEN Center for Sustainable Resource Science since 2013. He graduated from Nagoya University in 1974. He took Ph. D in molecular biology, especially DNA replication. He became Researcher of National Institute of Genetics and analyzed chloroplast gene structure and its expression. He became Assistant professor of Biology Department of Nagoya University, and then associate professor of Gene Research Center of Nagoya University. He analyzed chloroplast and cyanobacteria gene structure, and then fi rst determined tobacco chloroplast genome DNA sequence in 1986. In 1989, he became Chief Scientist of Plant Molecular Biology Laboratory RIKEN Tsukuba Institute, and then worked as Project Director of RIKEN Gnomic Sciences Center. In 2005, he became Director of RIKEN Plant Science Center. His main research projects are discovery and functional analysis of Arabidopsis genes in abiotic stress responses and tolerance, especially drought, cold, heat and high salinity. He have analyzed gene expression profi les in response to drought stress and identifi ed major regulatory signaling cascades in ABA-dependent and ABA-independent pathways. He has carried out Arabidopsis functional genomics in collection of full-length cDNAs and tagged mutant lines for systematics functional analysis of plant genes. He is also interested in the application of basic knowledge of stress related genes to molecular breeding of drought tolerant crops and trees.

52 Speakers’ Bio

Toshihiko Shiroishi Since 1998, Toshihiko Shiroishi has been professor of Mammalian Genetics Laboratory at the National Institute of Genetics, Mishima, Japan. His main research interest is in genetic control of complex traits, such as morphology and energy metabolism of mice. He has compiled information of the genome diversity of inbred mouse strains including wild mice-derived strains, and developed new inter-subspecifi c consomic strains, in which every chromosome of a classical inbred strain C57BL/6J is replaced by the counterpart of Japanese wild mice (Mus musculus molossinus)-derived MSM/Ms strain. Through comprehensive phenotype screening of the consomic strains, he is conducting genetic dissection of complex traits. Another research interest is in the genetic control of pattern formation during mouse early embryogenesis. In particular, he is working on the anteroposterior axis formation in limb development, and morphogenesis of laryngo-pharyngeal apparatus based on both of forward and reverse genetics approaches. Currently, he is also studying regulation of Sonic hedgehog (Shh) gene expression by multiple long-range enhancers, which is associated by chromosome dynamics and chromatin remodeling. In 1999-2008, he had been project director of the Mouse Functional Genomics Research Group at RIKEN Genomic Sciences Center, RIKEN, and directed a large-scale ENU mutagenesis project to generate mouse models of human late-onset diseases.

Andrew Singleton Dr Singleton received his B.Sc. from the University of Sunderland, UK and his Ph.D. from the University of Newcastle upon Tyne, UK. Dr Singleton’s research focused on genetic determinants of Alzheimer’s disease and dementia with Lewy bodies. His postdoctoral studies were spent at the Mayo Clinic in Florida. Dr Singleton moved to the National Institute on Aging and became a principal investigator in 2002. In 2007 Dr Singleton became a tenured senior investigator at the National Institute on Aging and Chief of the Laboratory of Neurogenetics.

Dr. Singleton has published over 300 research articles. His laboratory works on the genetic basis of neurological disorders including Parkinson’s disease, dystonia, ataxia, dementia and amyotrophic lateral sclerosis. The goal of this research is to identify genetic variability that causes or contributes to neurological diseases. Dr Singleton currently serves on the scientifi c advisory board of the Michael J. Fox Foundation; he is a member of the editorial boards of Neurodegenerative Diseases, Neurogenetics, Movement Disorders, Brain, Lancet Neurology, and Annals of Neurology. Dr. Singleton was awarded the Boehringer Mannheim Research Award in 2005, the NIH Director’s Award in 2008 and the Annemarie Opprecht Award for his work on Parkinson’s disease genetics in 2008. In 2012 Dr Singleton became the fi rst person to win the Jay van Andel Award for Outstanding Achievement in Parkinson’s Disease Research.

Neelima Sinha Neelima Sinha is a Professor in Plant Biology at the University of California in Davis. Her research focuses on studying fundamental mechanisms of leaf development, using model organisms such as tomato and a variety of research tools. She also studies the evolution of developmental mechanisms that generate plant form, and uses comparative as well as natural variation based approaches to elucidate these mechanisms. Recent work in her group has focused on high through-put phenotyping and global gene expression profi ling to understand hom plants proceed through development, and respond to their light environment. Another research focus is on parasitic plants and how they interact with their hosts.

Haruhiko Siomi Haruhiko Siomi is Professor in the Department of Molecular Biology at Keio University School of Medicine. He obtained his Diploma degree (1982) and M.S. degree (1984) in Chemistry from Gifu University, and his Ph. D. (1988) in Virology from Kyoto University. He was then an HHMI associate with Gideon Dreyfuss at the University of Pennsylvania School of Medicine, where he studied RNA-binding proteins, such as hnRNP proteins and FMR1. He joined the University of Tokushima faculty in 1999, where he, with Mikiko Siomi, started to work on RNA silencing. In 2008, he moved to his current position at Keio University. His research focuses on many aspects of RNA silencing including small RNA biogenesis, transposon silencing, and roles of Argonautes in silencing. He has served as co-chair of the Tokyo RNA Club.

53 Speakers’ Bio

Mikiko Siomi Mikiko C. Siomi is a Professor at the Graduate School of Science in the University of Tokyo. She was awarded Ph.D.s from Kyoto University in 1994 and the University of Tokushima in 2003. In 1999, together with Haruhiko Siomi, she founded a laboratory at the University of Tokushima to study the molecular function of Drosophila FMR1. Later, her research focused on small RNA-mediated gene silencing pathways in Drosophila. In 2008, she moved to Keio University School of Medicine, where her study of small RNA-mediated gene silencing continued. In 2012, she moved to the University of Tokyo. Her current study focuses on piRNA biogenesis and piRNA- mediated transposon silencing in the Drosophila germline.

Mike Snyder Michael Snyder is the Stanford Ascherman Professor and Chair of Genetics and the Director of the Center of Genomics and Personalized Medicine. Dr. Snyder received his Ph.D. training at the California Institute of Technology and carried out postdoctoral training at Stanford University. He is a leader in the fi eld of functional genomics and proteomics. His laboratory study was the fi rst to perform a large-scale functional genomics project in any organism, and has launched many technologies in genomics and proteomics. These including the development of proteome chips, high resolution tiling arrays for the entire human genome, methods for global mapping of transcription factor binding sites (ChIP-chip now replaced by ChIP-seq), paired end sequencing for mapping of structural variation in eukaryotes, and RNA-Seq. These technologies have been used for characterizing genomes, proteomes and regulatory networks. Seminal fi ndings from the Snyder laboratory include the discovery that much more of the human genome is transcribed and contains regulatory information than was previously appreciated, and a high diversity of transcription factor binding occurs between and within species. He is a cofounder of several biotechnology companies, including Protometrix (now part of Life Tehcnologies), Affomix (now part of Illumina), Excelix, and Personalis, and he presently serves on the board of a number of companies.

Dominique Soldati-Favre Dr. Soldati-Favre earned her Ph.D. degree in molecular biology from the University of Zürich in 1990. From 1991 until 1995, she conducted postdoctoral research in the Department of Microbiology and Immunology of the Stanford University School of Medicine. In 1994, she received a research award from the Swiss Society of Microbiology for her work in the development of transfection in Toxoplasma gondii. In 2001, she received the Rodolfi Medal from the German Society for Parasitology, and she was elected a member of EMBO in 2011. She obtained her private docent degree from the University of Heidelberg in 2001 and was Reader at Imperial College London until 2003. Dr. Soldati-Favre conducts research as a full professor in the Department of Microbiology and Molecular Medicine at the University of Geneva and since 2011 she is Vice-Dean for basic Research at the Faculty of Medicine. She was HHMI International Scholar in infectious diseases between 2000 and 2010 and she is HHMI senior International Scholar since 2012.

Michael Stratton Mike Stratton studied medicine at Oxford University and Guy’s Hospital, specialised in histopathology and obtained his PhD at the Institute of Cancer Research, London. His research is in cancer genetics. Early studies focused on inherited predisposition, notably discovery of the breast cancer susceptibility gene BRCA2. Subsequently, he initiated genome-wide sequencing for somatic mutations in cancer, discovering BRAF mutations in malignant melanoma and describing basic mutational patterns in cancer genomes. He is Director of the Wellcome Trust Sanger Institute, Hinxton, UK.

E Shyong Tai A/Prof Tai is the head of the Division of Endocrinology at the National University Hospital. He oversees a reserach program that has focussed largely on the causes of metetabolic diseases as well as the burden that these diseases impose on society. A particular interest relates to differences in the prevalence and the manifestations of metabolic diseases in various ethnic groups. Over the past several years A/Prof Tai has conducted several studies to examine the genetic basis of type 2 diabetes and associated metabolic disorders including obesity, dyslipidemia and hypertension. He has contributed signifi cantly to the efforts to dissect the genetic architecture of these disorders in both South Asians and East Asians.

54 Speakers’ Bio

Joseph Takahashi Joseph S. Takahashi is the Loyd B. Sands Distinguished Chair in Neuroscience, an Investigator of the Howard Hughes Medical Institute, and Chair of the Department of Neuroscience at the University of Texas Southwestern Medical Center in Dallas. His research interests are the molecular mechanism of circadian clocks, neuroscience, and the genetic basis of complex behavior. Dr. Takahashi has pioneered the use of forward genetics and positional cloning in the mouse as a tool for discovery of genes underlying neurobiology and behavior. Takahashi received a B.A. in biology from Swarthmore College in 1974 and a Ph.D. in neuroscience from the University of Oregon, Eugene, in 1981. For postdoctoral training, he was a pharmacology research associate at the National Institute of Mental Health. His awards include the Honma International Prize in Biological Rhythms Research in 1986, W. Alden Spencer Award in Neuroscience from Columbia University in 2001, Eduard Buchner Prize from German Society for Biochemistry and Molecular Biology in 2003 and Outstanding Scientifi c Achievement Award from the Sleep Research Society in 2012. He was elected a Fellow of the American Academy of Arts and Sciences in 2000, and a Member of the National Academy of Sciences in 2003.

Patrick Tan Prof. Patrick Tan holds a joint appointment as a Professor at the Duke-NUS Graduate Medical School and a Group Leader at the Genome Institute of Singapore. He is a Program Leader in Genomic Oncology at the Cancer Science Institute of Singapore, National University of Singapore and a Research Associate Professor in the Institute of Genome Sciences and Policy at Duke University, USA. His research focuses the application of genomics to cancer and infectious disease. He received his B.A. (summa cum laude) from Harvard University and MD PhD degree from Stanford University, where he received the Charles Yanofsky prize for Most Outstanding Graduate Thesis in Physics, Biology or Chemistry. Locally, he has received the President’s Scholarship, Loke Cheng Kim foundation scholarship, Young Scientist Award (A-STAR), Singapore Youth Award (twice), and the Singhealth Investigator Excellence Award. He is an editorial board member of the journals BMC Medical Genomics, PLOS One, Analytical Cellular Pathology, and Frontiers in Cancer Genetics . He is a member of the Local Review Panel (LRP) to the National Medical Research Council and a member of the Bioethics Advisory Committee (BAC), a national body that provides advice to the Singapore government on ethical issues related to biomedical research.

Diethard Tautz Diethard Tautz obtained his PhD in Tübingen in 1983. After postdoc positions at the Department of Genetics in Cambridge (1983-1985) and the Max-Planck Institute in Tübingen (1985-1988), he moved to Munich and became Professor at the Department of Zoology. In 1998 he moved to Cologne and became Professor for Evolutionary Genetics at the Department of Genetics. Since 2007 he is Director at the Max-Planck Institute for Evolutionary Biology in Plön, Germany. His research interests have focussed on studying the evolution of developmental processes, as well as on genome evolution, population genetics and speciation. He has developed microsatellites as a tool in population genetics and has applied this for studying the evolution of mating systems, speciation and identifi cation of selective sweeps. He is currently focussing on the characterization of genes involved in adaptation processes, using the house mouse as a model system. In addition, he studies the de novo evolution of genes and he has received an ERC advanced grant for this project.He is Senior Editor of Molecular Ecology, Co-Editor of Frontiers in Zoology and reviewing editor for eLIFE.

Graham Taylor Following a postodoc MRC Clinical Research Centre he joined the University Department of Haematology in Manchester in 1988 and developed a PCR method to detect HIV infection in haemophilia. He established the Yorkshire Regional Molecular Genetics Service based in Leeds where he developed the fi rst diagnostic use of microsatellites and numerous other initiatives in molecular genetics and pathology including the pilot project for UK diagnostic mutation database DMuDB.

55 Speakers’ Bio

Yik Ying Teo A/Prof Teo majored in genomic statistical studies and has gained international recognition for his immense knowledge. He underwent intensive DPhil training at the University of Oxford with Prof Peter Donnelly FRS, renowned for his expertise in applied statistics and interpretation of DNA evidence. He currently focuses on research in the development and application of sophisticated mathematical and statistical methodologies to understand the genetic etiology of human diseases and genetic evolution in Singapore. He has conducted large scale genomic studies on populations from Africa, Europe and the three major ethnic groups in Singapore to elucidate the molecular mechanism of common diseases and traits. He has published extensively in top journals including Nature, Nature Review Genetics, Nature Genetics, Nature Methods and Genome Research, as well as in statistical and computational journals such as Biostatistics and Bioinformatics.

Dorothy Toh Dorothy Toh is currently the Director for Vigilance Branch, which is responsible for the continuous monitoring of the safety profi le of marketed health products. Besides administering the national ADR monitoring program, the Vigilance Branch also reviews company reports as well as signals detected by other drug regulatory authorities to ensure the continued benefi t-risk profi le of products on the market remain favourable.

Prior to joining the Vigilance Branch, Dorothy was a regulatory consultant with the Clinical Trials Branch, which has regulatory oversight over clinical trials on health products in Singapore and conducts pre-market safety assessments for investigational health products.

Dorothy worked at pharmaceutical MNCs prior to joining HSA. She graduated from the Department of Pharmacy, National University of Singapore and has a Masters in Public Health from the University of Newcastle. She has a PhD in Pharmacogenetics from the University of Sydney.

Sissades Tongsima Sissades Tongsima received the Royal Thai Government scholarship to pursue Master and PhD.degrees in Computer Science and Engineering (Parallel and Distributed Computing) and earned the degrees in 1995 and 1999 from the University of Notre Dame, Indiana, USA. Upon the completion of his doctoral study, Dr. Tongsima had been involved in a project to establish computational grid during his term with the National Electronics and Computer Technology Center (NECTEC), Thailand. In 2002, he moved to work as a researcher at National Center for Genetic Engineering and Biotechnology (BIOTEC), Thailand where his research focuses were shifted to studying human genetic variation for Thais. Dr.Tongsima is currently a principle researcher and head of biostatistics and bioinformatics laboratory, Genome Institute, BIOTEC. His research interests are on bioinformatics, gene mapping of human diseases, transposable elements, human population genomics, plant genomics and medical informatics. Dr. Tongsima has patented and published his research contributions in bioinformatics and computational biology; some of them were highlighted in the Asia-Pacifi c International Molecular Biology Network (AIMB-N). Internationally, he serves as an executive committee of Asia Pacifi c Bioinformatics Network (APBioNet) and a steering committee of the Pan Asian Population Genomics Initiative (PAPGI). He is also an associate editor of the Journal of Human Genetics (JHG), Nature Publishing Group.

Bik-Kwoon Tye Dr. Bik Kwoon Tye is Professor of Molecular Biology and Genetics at Cornell University and Visiting Professor at the Hong Kong University of Science & Technology. She received her BA degree (’69) from Wellesley College, MSc (’71) from the University of California, San Francisco, and PhD (’74) from MIT. She was Helen Hay Whitney Fellow at Stanford University before joining the Cornell University faculty in 1977. Her research interest in the regulation of eukaryotic DNA regulation began when she started her own laboratory as a young assistant professor after taking the Yeast Course at Cold Spring Harbor Laboratory. Using a genetic screen that searched for yeast mutants that show differential effects on the maintenance of minichromosomes (mcm) carrying different autonomously replicating sequences (ARSs), her group identifi ed some of the key regulators in the initiation of DNA replication. Among the genes identifi ed were those that encode subunits of the replicative helicase. Her current research focuses on the mechanism that activates and releases the inactive pre-Replicative Complexes (pre-RCs) that are bound to replication origins and the mutagenic effects of a defective replicative helicase in dividing cells.

56 Speakers’ Bio Welcome to our booth No.C17

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57 Speakers’ Bio

58 Speakers’ Bio

David Valle Dr. Valle is The Henry J. Knott Professor and Director of the McKusick-Nathans Institute of Genetic Medicine with a co-primary appointment in the Department of Pediatrics and joint appointments in the Departments of Molecular Biology & Genetics and Ophthalmology at Johns Hopkins University School of Medicine. His research interests include human genetic disease with an emphasis on inborn errors of metabolism, inherited retinal degenerations, rare Mendelian disorders and, more recently, on the identifi cation and understanding of genetic factors that contribute increase susceptibility for neuropsychiatric diseases such as schizophrenia.

Dr. Valle is a member of the Institute of Medicine of the National Academy of Science, Association of American Physicians and a fellow of the American Association for the Advancement of Science. He is a past president of the American Society of Human Genetics and is the senior editor of The Metabolic and Molecular Bases of Inherited Disease. He is also director of the Predoctoral Training Program in Human Genetics and the Johns Hopkins Center for Inherited Disease Research.

Dr. Valle earned his B.S and M.D. from Duke University. He completed his pediatric residency on the Harriet Lane Service at The Johns Hopkins Hospital. He has published > 200 papers in reviewed journals and contributed close to 40 book chapters.

Veronica van Heyningen Veronica van Heyningen was a group leader and Section Head for many years at the Medical Research Council Human Genetics Unit, now part of the Institute of Genetics and Molecular Medicine at the University of Edinburgh. Genes she identifi ed to be mutated in developmental disease have provided fascinating insight into the fi nely tuned mechanisms of long-range gene regulation and function. She was elected a member of EMBO, and a Fellow of the Royal Society of Edinburgh, the Academy of Medical Sciences and of the Royal Society. Currently she is an Honorary Professor at University College London, with ongoing collaborations at the Institute of Ophthalmology and at MRC HGU. She is a long-standing member of HUGO and recently served on Council for two terms.

Joris Veltman Professor in Translational Genomics at the Department of Human Genetics, Radboud University Nijmegen Medical Centre in Nijmegen, The Netherlands, working at this department since 2000, also head of the research division of this department, consisting of 135 scientists. My research focuses on the identifi cation and interpretation of genomic variation, with a particular interest in the role of rare de novo mutations in severe neurodevelopmental and psychiatric diseases such as intellectual disability and rare genetic diseases. In 2011 I obtained an ERC consolidator grant to study the role of these mutations in disease. With my research group of 18 members I study the genomes of patients using next generation sequencing technology (mostly exome and genome sequencing) and combine laboratory experiments with novel bioinformatic approaches. I am actively involved in the implementation of these novel genomics approaches in routine clinical diagnosis, aiming to improve the diagnostic yield, reduce the turn-around-time and make personalized medicine a reality.

Jan Vijg Jan Vijg, Ph.D., is Professor and Chairman of the Department of Genetics at the Albert Einstein College of Medicine in New York. He received his Ph.D. at the University of Leiden, The Netherlands, in 1987 and was previously Scientifi c Director and Founder of Ingeny B.V., a Dutch biotechnology company, an Associate Professor of Medicine at Harvard Medical School in Boston (1993-1999), a Professor of Physiology at the University of Texas Health Science Center in San Antonio, Texas (1999-2005), and a Professor at the Buck Institute for Research on Aging, Novato, California (2006-2008).With his research team he was the fi rst to develop transgenic mouse models for studying mutagenesis in vivo (in 1989) and used these models ever since in studying the possible relationship between damage to the genome and aging. He has published more than 200 scientifi c articles and is inventor or co-inventor on 8 patents. He is currently developing single-cell whole genome sequencing methods to study somatic mutations and epimutations in cancer and aging.

59 Speakers’ Bio

George Weinstock Dr. George Weinstock applies high-throughput DNA sequencing, genome-wide analysis, bioinformatics, and other genetic methods to the study of human, model organisms and microbial genomes. His goal is to employ genetic and genomic thinking to important problems in biology. He led one of the fi rst bacterial genome projects, sequencing Treponema pallidum, the causative agent of syphilis. He is now a leader of the Human Microbiome Project, studying the collection of microbes that colonize the human body. The goal of this work is to analyze the genomes of these organisms, characterize the communities they form, and measure how communities change in different health and disease states. He was one of the leaders of the Human Genome Project and also the fi rst personal genome project, sequencing Dr. James Watson’s genome using next-generation sequencing technology. He is now leading projects using next-generation sequencing to discover mutations causing human disease, as well as applying sequencing in clinical settings. Currently Professor of Genetics and Professor of Molecular Microbiology at Washington University, Dr. Weinstock was previously Co-Director of the Human Genome Sequencing Center at Baylor College of Medicine in Houston, TX and Professor of Molecular and Human Genetics there. Dr. Weinstock received his B.S. degree from the University of Michigan (Biophysics, 1970) and his Ph.D. from the Massachusetts Institute of Technology (Microbiology, 1977).

Chris Wheat Christopher W. Wheat is an assistant professor at Stockholm University in Sweden. There he works to fi nd the genetic variation affecting how animals adapt to their environment using genomic tools in species with well understood ecologies, such as butterfl ies. Chris received his PhD from Stanford University with Prof. Ward Watt, studying how genetic variation in glycolysis can affect butterfl y fl ight and natural selection dynamics. He then work as a Postdoctoral researcher at the Max Planck Inst. for Chemical Ecology, in Germany, with Prof. Tom Mitchell-Olds, focusing on the genetic basis of plant-herbivore co-evolutionary interactions. His second postdoctoral position was jointly at Penn State University, USA, with Prof. Jim Marden and at the University of Helsinki, Finland, with Prof. Ilkka Hanski. There he worked on developing transcriptome analyses in the search for genetic variation affecting butterfl y fl ight in a metapopulation. Currently he is the scientifi c coordinator of a Wallenberg Foundation grant, entitled “Insect life cycle genomics and adaptation in the wild”. He is a reviewer for 28 journals and an associated editor for two (Evolution, and BMC Evolutionary Biology).

Christopher Wong Dr Christopher Wong trained as a cancer biologist with Ruth Muschel at the University of Pennsylvania, receiving his PhD in 2001. He returned to Singapore as one of the founding scientists at the Genome Institute of Singapore (GIS), where he became an expert in microarray technology development and applications. During the SARS outbreak, he invented the SARS Resequencing Chip, which was used for epidemiology studies of the SARS virus in Singapore. Subsequently, this technology was adapted for Dengue Resequencing as well as H1N1(2009) Resequencing. The H1N1(2009) Resequencing kit is still being used in Mexico for studies on H1N1.

From 2008-2011, he was concurrently Head of the Biopolis Shared Facilities, responsible for managing the shared scientifi c services laboratories. From 2009, he was appointed as Chief Scientifi c Offi cer at the GIS, responsible for translating GIS research discoveries in cancer genomics and infectious diseases into products which can be used for patient care in the hospitals, and for commercialization. In 2011, he founded PathGEN Dx Pte. Ltd., a spin-off company developing Infectious Disease Diagnostics products based on technology licensed from GIS.

Margaret Wright Dr. Margie Wright is a Senior Research Fellow and Group leader of the Neuroimaging Genetics Laboratory at the Queensland Institute of Medical Research, Brisbane, Australia. Her work aims to further our understanding of diseases affecting the brain, particularly the genetic factors predisposing to brain disease, by providing fundamental knowledge of the genetic factors infl uencing normal brain processing, and discovering variants that infl uence key characteristics in brain plasticity, and interact with adverse life experiences and predispose to psychopathology. Dr. Wright directs the Queensland arm of the Older Australian Twins Study, a multi-site study investigating the genetic and environmental factors infl uencing decline in cognition and changes in brain morphology related to brain ageing. She is also the Project Leader of the Queensland Twin Imaging Study, an NIH and NHMRC funded study including multi-modal imaging on 1000 healthy young adult twins that is investigating the impact of genetic variation on the human brain, and founding member of the ENIGMA (Enhancing Neuroimaging Genetics through Meta-Analysis) consortium (> 23 groups worldwide) resulting in a landmark genome-wide association meta-analysis (GWASMA) study identifying genetic variants that affect the overall volume of the brain and the volume of the hippocampus. 60 AMPLIFICATION // QX100TM DROPLET DIGITALTM PCR SYSTEM

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61 PRINT ISSN Speakers’0964-6906, ONLINE ISSN 1460-2083 Bio HUMAN MOLECULAR GENETICS Human Molecular Genetics Volume 22 Number 2 15 January 2013 www.hmg.oxfordjournals.org HMG publishes papers of excellence in all aspects of human molecular genetics. The journal includes a section dedicated to strongly supported Association Studies, and publishes two highly popular Review issues each year. Publish with HMG for fast, fair peer review by expert reviewers, rapid online publication within days of acceptance, high impact, the choice of open access for authors, and easy compliance with the NIH Public Access policy. hmg.oxfordjournals.org

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h Aninternationaljournalforrapidpublicationofpapers in broad aspects of DNA and genome-related research DNA Research

This international peer-reviewed journal publishes high quality papers on DNA and genome-related research. Key areas for the journal include: 1. Sequences and comprehensive analysis of genes/ genomes 2. Useful techniques for structural/functional analysis 3. Computer algorithms and applications in genetics/ VOLUME19 genomics NUMBER6 4. Novel findings in scientific disciplines related to DECEMBER 2012 genetics/genomics dnaresearch.oxfordjournals.org DNAResearch

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Register to our free content alerts today to receive the latest from your favorite journalsj at My Account at http://oxford.ly/HGMICG13 Once logged in to My Account, you can add/edit/delete your preferences from “View alerting preferences”. 62 Speakers’ Bio

Shuhua Xu Dr. Shuhua Xu is professor of human population genetics and Principal Investigator of Population Genomics Group at the CAS-MPG Partner Institute for Computational Biology. He is currently also holding the position of Max-Planck Independent Research Group Leader. He received his PhD at Fudan University; his scientifi c research has focused on human population structure, local adaptation and complex trait gene mapping. Dr. Xu has authored many scientifi c papers published in Science, PNAS, The American Journal of Human Genetics, Genome Research, Human Molecular Genetics, Molecular Biology and Evolution, the PLoS and the BMC series. Dr. Xu is the recipient of a number of awards: Distinguished Young Scientist of Chinese Academy of Sciences (CAS); Top 100 National Outstanding Doctoral Dissertation Award in China; Chia-Si Lu Scholarship of CAS; Shanghai Rising-Star Award, bestowed by the Science and Technology Commission of Shanghai Municipality; 1st Class Prize of Natural Science Award, Ministry of Education, China; Sanofi Aventis (SA)-SIBS Young Faculty Award (France); Life Science Award, MEIJI Dairies Corp (Japan); Thesis Advisor for 2012 SIBS-Eli Lilly Outstanding Graduate Thesis Award Winner (US).

Hao Yu Dr. Hao Yu obtained Ph.D degree from National University of Singapore (NUS), and did postdoc research in Elliot Meyerowitz’s lab in California Institute of Technology. He established an independent research group in the Department of Biological Sciences, NUS, in 2004. He is currently Associate Professor in NUS and Senior Principal Investigator in Temasek Life Sciences Laboratory. His lab focuses on molecular genetic studies on plant reproductive development and phytohormone signaling and has made important contribution to these areas. Dr. Hao Yu was the winner of Singapore Youth Award for Science and Technology and Singapore National Academy of Science Young Scientist Award. He is also the Dean’s Chair Professor in NUS since 2011.

Qifa Zhang Qifa Zhang earned his B. S. in agronomy, in 1976 in Huazhong Agricultural College, China, and Ph D in genetics in 1985 in the University of California at Davis, USA. He is currently a professor of Huazhong Agricultural University, Dean of the College of Life Science and Technology, and Director of the National Key Laboratory of Crop Genetic Improvement. He has focused his research and provided leadership in genomics and biotechnology of rice in China. His research achievements include: (1) genetic analysis, identifi cation, mapping and functional characterization of genes for agronomically important traits of yield, grain quality, male sterility and hybrid fertility, nutrition effi ciency, drought resistance, disease and insect resistances; (2) characterization of the genetic basis of heterosis in hybrid rice; (3) establishment of technological platforms for functional genomics studies including a large T-DNA insertional mutant library, global and whole life cycle expression profi le, full-length cDNA libraries; (4) rice varietal improvement using molecular marker and transgenic technologies. He has published more than 190 original research and review papers in internationally journals, and delivered plenary speeches in a large number of international scientifi c conferences. He was elected to the Chinese Academy of Sciences in 1999, the Third World Academy of Sciences in 2000, and foreign associate of the National Academy of Sciences, USA in 2007.

Jian-Min Zhou Dr. Jian-Min Zhou received his PhD in the Department of Horticulture and Landscape Architecture at Purdue University in 1994. In the next three years, he conducted postdoctoral research on tomato plant disease resistance in the Department of Agronomy at Purdue University before joining the faculty of the Plant Pathology Department at Kansas State University and moved up to the rank of Associate Professor in 2002. His research in Kansas dealt with genetic and molecular basis of non-host resistance in plants. In 2004, Dr. Zhou moved his research group to National Institute of Biological Sciences, Beijing and served as Associate Investigator and Investigator until 2012. He is now an Investigator at the Institute of Genetics and Developmental Biology, Chinese Academy of Sciences. In Beijing, Dr. Zhou’s research primarily focuses on the molecular basis of plant innate immunity and bacterial pathogen virulence. His new research interest also includes plant-microbe interactions involving important crop plants such as rice and wheat. He serves on the editorial board of PLoS Pathogens, Molecular Plant-Microbe Interactions, and Molecular Plant.

63 Speakers’ Bio

Cyril Zipfel Cyril Zipfel is a Senior Group Leader at The Sainsbury Laboratory, Norwich (UK). After studying biology at the universities of Strasbourg, Nancy and Paris (France), he obtained his PhD in 2005 from the University of Basel (Switzerland) where he worked in the laboratory of Prof. Thomas Boller. From 2005 to 2007, he was an EMBO Post-Doctoral Fellow in the laboratory of Prof. Jonathan Jones at The Sainsbury Laboratory, Norwich (UK).

He is a recognized pioneer and leader in the fi eld of innate immunity mediated by plant receptor kinases. His research is multidisciplinary and unifi es concepts and methods from pathology, immunology, microbiology, molecular plant biology, genetics, biochemistry, and biotechnology.

He has published some of the fi rst and most infl uential papers on this topic. His international visibility is refl ected by numerous invitations to present his research internationally, regular invitations to write review articles and to review manuscripts, to review national and international grant proposals, and the participation in several editorial boards. He has recently been appointed Senior Editor for Molecular Plant Pathology. His research is funded by the Gatsby Charitable Foundation, BBSRC, ERA-PG, The Royal Society and the Two Blades Foundation. In 2012, he was awarded a prestigious and competitive European Research Council Starting grant.

64 Discover GeneticsSpeakers’S peandakers’ BBioio Genomics with Wiley

Wiley publishes 20 Impact Factor-ranked journals in Genetics and Heredity, which contribute >2,400 research articles and receive >100,000 citations per year* Our Genetics journals include:

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20% book discount Browse our print books at http://bit.ly/GeneticsBooks using promo code HGM13 at the checkout for a 20% discount (valid until end of June 2013)

Read on for key journals and books in your area of interest! 65 Oral Presentation Schedule

Saturday 13 April 2013 10:00 – 12:00 F1Transcription and Chromatin HGM2013-ICG-1286 GENOME-WIDE KINASE-CHROMATIN INTERACTIONS REVEAL THE TRANSCRIPTIONAL REGULATORY NETWORK DOWNSTREAM OF ERK2 IN HUMAN EMBRYONIC STEM CELLS - Jonathan Göke HGM2013-ICG-1294 COORDINATED REGULATION OF PROMOTER ACTIVITY WITHIN MAMMALIAN CHROMATIN DOMAINS - Colin A Semple

13:30 – 15:30 A2 Genetics of Immune & Autoimmune Disorders HGM2013-ICG-1548 IDENTIFICATION OF DUPLICATIONS AT IMMUNE-RELATED GENES ASSOCIATED WITH SYSTEMIC LUPUS ERYTHEMATOSUS - Lachlan Coin HGM2013-ICG-1600 FINE MAPPING THE FCGR2A ASSOCIATION WITH SUSCEPTIBILITY TO RHEUMATOID ARTHRITIS - Jim Robinson

13:30 – 15:30 F2 Noncoding RNAs & miRNAs HGM2013-ICG-1787 FUNCTIONAL SMALL RNAS ARE GENERATED FROM SELECT MIRNA HAIRPIN LOOPS IN FLIES AND MAMMALS - Katsutomo Okamura

Sunday 14 April 2013 10:30 – 12:30 B3 Tropical Parasites HGM2013-ICG-1413 THE IMPACT OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENT VARIANTS IN THAI ON PARASITE INVASION AND MATURATION BY PLASMODIUM FALCIPARUM - Duangdao Nantakomol

14:00 – 16:00 B4 Veterinary Genetics HGM2013-ICG-1786 VARIANCE COMPONENT ESTIMATION FOR VITELLOGENIN CONCENTRATION AND REPRODUCTIVE TRAITS AT SEXUAL MATURITY IN PHILIPPINE MALLARD (ANAS PLATYRHYNCHOS DOMESTICUS L) - Arnolfo MARQUEZ Monleon

Monday 15 April 2013 10:00 – 12:00 F6 Development Genetics HGM2013-ICG-1177 LOSS-OF-FUNCTION OF SEMAPHORINS 3C AND 3D IN HIRSCHSPRUNG DISEASE - Qian Jiang

13:30 – 15:30 F7 Hybrids & Speciation HGM2013-ICG-1189 THE EVOLUTIONARY RELATIONSHIPS AMONG XIPHOPHORUS FISH: A GENOME WIDE APPROACH USING RAD SEQUENCING - Julia C Jones

13:30 – 15:30 B6 Crop Stress Tolerance HGM2013-ICG-1170 MAPPING OF PEARL MILLET GENE BASED MARKERS UNDERLYING DROUGHT TOLERANT QTL ACROSS

10:00 – 12:00 Oral Presentation 1 HGM2013-ICG-1141 EXOME SEQUENCING REVEALS THE CAUSATIVE MUTATIONS IN FAMILIES WITH RECESSIVE DISORDERS FROM THE UNITED ARAB EMIRATES - Bassam R Ali

All the information is correct as of 01 April 2013

66 Oral Presentation Schedule

HGM2013-ICG-1260 PHENOTYPIC DESCRIPTION OF FETAL HAEMOGLOBIN (HBF) AND GENETIC ASSOCIATION OF 3 PRINCIPAL LOCI (HBB, BCL11A AND HMIP) WITH HAEMOGLOBIN (HBF,HGB) IN TANZANIA - Siana Nkya HGM2013-ICG-1261 COMPLEMENTATION BETWEEN SPECIFIC PHENYLALANINE HYDROXYLASE (PAH) MISSENSE MUTATIONS AND CORRELATION TO CLINICAL PHENOTYPE IN PHENYLKETONURIA (PKU) - Gladys Ho HGM2013-ICG-1267 UNRAVELLING DEVELOPMENTAL DELAY/INTELLECTUAL DISABILITY BY HIGH RESOLUTION COMPARATIVE GENOMIC HYBRIDIZATION - Maggie Brett HGM2013-ICG-1384 EXOME SEQUENCING OF THE PRIMARY CILIARY DYSKINESIA UK10K COHORT IDENTIFIES CCDC114 AND OTHER NOVEL DISEASE CAUSING GENES - Alexandros Onoufriadis HGM2013-ICG-1532 WHOLE GENOME SEQUENCE IDENTIFIES A NOVEL OCCLUDIN MUTATION CAUSING AUTOSOMAL RECESSIVE MICROCEPHALY-INTRACRANIAL CALCIFICATION DISORDER - Tawfeg Ben-Omran HGM2013-ICG-1631 MECKEL-GRUBER SYNDROME IN ARABS: REPORT OF NOVEL CANDIDATE GENES AND GENETIC HETEROGENEITY - Ranad Shaheen HGM2013-ICG-1693 DELETION OF A DISTANT-ACTING ENHANCER ON CHR16P13.3 CAUSES RECESSIVE INTRACTABLE DIARRHEA OF INFANCY SYNDROME - Doron Lancet

Tuesday 16 April 2013 10:00 – 12:00 E1 Genomics HGM2013-ICG-1367 TOWARDS CLINICAL GRADE GENOMES WITH JOINT BAYESIAN VARIANT IDENTIFICATION - Francisco M. De La Vega HGM2013-ICG-1618 R-LOOPS IN MAMMALIAN GENOMES ARE EVOLUTIONARILY CONSERVED AND COULD CONTROL EXPRESSION OF GENES INVOLVED IN CHROMATIN MODIFICATION AND TRANSCRIPTION FROM POL II PROMOTER - Thidathip Wongsurawat

10:00 – 12:00 G2 Protists Model System HGM2013-ICG-1400 TRYPANOSOMA CRUZI COORDINATED GENE EXPRESSION REGULATION BY POST- TRANSCRIPTIONAL REGULONS - Samuel Goldenberg

10:00 – 12:00 G3 Flowering Plant Genetics HGM2013-ICG-1805 REGULATION OF SHOOT APICAL MERISTEM FORMATION BY SEUSS AND SEUSS-LIKE 2 IN ARABIDOPSIS - John Golz

14:00 – 16:00 Oral Presentation 2 HGM2013-ICG-1074 NEXT GENERATION RNA INTERFERENCE MODELS FOR DRUG DISCOVERY AND TOXICOLOGY ASSESSMENT - Prem Premsrirut HGM2013-ICG-1168 IDENTIFICATIONS OF IL18RAP/IL18R1 AND IL12B AS LEPROSY RISK GENES DEMONSTRATED SHARED PATHOGENESIS BETWEEN INFLAMMATION AND INFECTIOUS DISEASES - Astrid Irwanto HGM2013-ICG-1175 LINEAGES BASED ASSOCIATION ANALYSIS OF TUBERCULOSIS - Surakameth Mahasirimongkol HGM2013-ICG-1389 EXOME SEQUENCING IDENTIFIES RARE VARIANT ASSOCIATIONS WITH NEUROINVASIVE WEST NILE VIRUS INFECTION - Mark Seielstad HGM2013-ICG-1771 COMPARATIVE TRANSCRIPTOMICS OF PLASMODIUM - Peter Rainer Preiser HGM2013-ICG-1813 ACCESS AND ADAPTATION TO AN INTRACELLULAR NICHE: THE APICOMPLEXAN WAY - Dominique Soldati-Favre HGM2013-ICG-1852 FROM MONOGENIC TO POLYGENIC MODELING OF HUMAN DISEASES BY MOUSE MUTAGENESIS AND NEXT-GENERATION SEQUENCING (NGS) - Yoichi Gondo

All the information is correct as of 01 April 2013

67 Oral Presentation Schedule

14:00 – 16:00 Oral Presentation 3 HGM2013-ICG-1076 A NATIONAL RESEARCH PLATFORM FOR GENOME-BASED PERSONALIZATION OF CANCER THERAPY - Ola Myklebost HGM2013-ICG-1136 FSH-ACTION MODULATING COMMON VARIANTS IN FSHB AND FSHR GENES HAVE A POTENTIAL APPLICATION IN PHARMACOGENETICS - Marina Grigorova HGM2013-ICG-1235 THE LESSONS OF THE CLARITY CHALLENGE: CHILDREN’S LEADERSHIP AWARD FOR THE RELI ABLE INTERPRETATION AND APPROPRIATE TRANSMISSION OF YOUR GENOMIC INFORMATION - Catherine A Brownstein HGM2013-ICG-1244 ASSOCIATION OF COMMON AND RARE VARIANTS WITH ADIPOSITY IN AFRICAN AMERICANS - Maggie Chor Yin Ng HGM2013-ICG-1492 LARGE-SCALE GENOME-WIDE ASSOCIATION META-ANALYSIS USING IMPUTATION FROM 2188-HAPLOTYPE 1000 GENOMES REFERENCE PANEL IDENTIFIES NOVEL SUSCEPTIBILITY LOCI FOR ANTHROPOMETRIC AND GLYCEMIC TRAITS - Momoko Horikoshi HGM2013-ICG-1495 DISCOVERY AND FINE-MAPPING OF TYPE 2 DIABETES SUSCEPTIBILITY LOCI THROUGH TRANS-ETHNIC META-ANALYSIS - Anubha Mahajan HGM2013-ICG-1593 GENOME-WIDE ASSOCIATION ANALYSIS REVEALS NOVEL RARE VARIANT ASSOCIATIONS WITH LIPIDS IN GENES WITHIN ESTABLISHED LOCI VIA IMPUTATION UP TO THE 1000 GENOMES PROJECT REFERENCE PANEL - Andrew Morris HGM2013-ICG-1719 GENOME-WIDE ASSOCIATION ANALYSIS SUGGESTS INFLUENCE OF GLYCAN METABOLISM AND GASTRO-INTESTINAL INFECTIONS ON VITAMIN B12 LEVELS: A PRELIMINARY ANALYSIS - Suraj Singh Nongmaithem

14:00 – 16:00 Oral Presentation 4 HGM2013-ICG-1186 PLACENTAL GENE EXPRESSION PROFILING AND NOVEL BIOMARKERS IN PREGNANCY COMPLICATIONS - Maris Laan HGM2013-ICG-1202 INCREASED INTERFERON GAMMA (IFNG) AND ITS INTRONIC VARIANTS CORRELATE WITH DISEASE PROGRESSION AND HIGHER SUSCEPTIBILITY TOWARDS GENERALIZED VITILIGO - Mitesh Dwivedi HGM2013-ICG-1248 A PHOSPHOLIPID FLIPPASE ESSENTIAL FOR OLFACTORY NEURON FUNCTION IN DROSOPHILA MELANOGASTER - Coral Warr HGM2013-ICG-1277 AN INTACT GENOME, ISOGENIC HIPSC MODEL FOR DOWN’S SYNDROME REVEALS NEUROGENESIS AND MITOCHONDRIAL DEFECTS CAUSED BY TRISOMY 21 - Dean Nizetic HGM2013-ICG-1289 GENETIC VARIANTS OF TUMOR NECROSIS FACTOR (TNF)-ß ASSOCIATE WITH ITS INCREASED TRANSCRIPT LEVELS IN VITILIGO PATIENTS: A GENOTYPE-PHENOTYPE STUDY - Naresh C. Laddha HGM2013-ICG-1799 NEUROEPITHELIAL-LIKE STEM CELL SYSTEM FOR MODELING OF NEUROPATHOGENESIS IN DOWN SYNDROME - Maria Sobol HGM2013-ICG-1352 UNIQUE PEDIGREE REVEALS INSIGHT IN THE GENETICS OF CHILDHOOD ALLERGIC ASTHMA - Janine Altmüller HGM2013-ICG-1765 IDENTIFICATION OF FUT2 AS A RISK FACTOR FOR BEHÇET’S DISEASE IN A GENOME-WIDE ASSOCIATION STUDY - Sofi a A Oliveira Wednesday 17 April 2013 10:00 - 12:00 Biodiversity & Landscape Genetics HGM2013-ICG-1240 ENTROPY AND INFORMATION APPROACHES TO GENETIC DIVERSITY: GENOMIC GEOGRAPHY - William Bruce Sherwin 10:00 – 12:00 G5 Vertebrate Genetics HGM2013-ICG-1082 ALL ANIMALS ARE NOT EQUAL: SOME GENOMES ARE MORE EQUAL THAN OTHERS - Elspeth Bruford HGM2013-ICG-1393 THE CIRCADIAN CLOCK ACTS THROUGH DOPAMINE SIGNALING TO REGULATE THE PATHOGENESIS OF ATTENTION DEFICIT AND HYPERACTIVITY DISORDER (ADHD) - Han Wang

All the information is correct as of 01 April 2013

68 Oral Presentation Schedule

10:00 – 12:00 Oral Presentation 5 HGM2013-ICG-1153 WHOLE-GENOME RECONSTRUCTION AND MUTATIONAL SIGNATURES IN GASTRIC CANCER - Axel M Hillmer HGM2013-ICG-1309 EARLY AND HIGH SENSITIVE DETECTION OF COLORECTAL CANCER MUTATIONS USING THIRD GENERATION SEQUENCING - Giancarlo Russo HGM2013-ICG-1356 METAGENOMICS OF CHILDHOOD LEUKEMIA: FROM THE FALLON, NV CLUSTER TO THE CALIFORNIA STATEWIDE STUDY - Stephen Starko Francis HGM2013-ICG-1383 INSULIN-LIKE GROWTH FACTOR (IGF) PATHWAY GENETIC POLYMORPHISMS, CIRCULATING IGF1 AND IGFBP3 LEVELS AND PROGRESSION TO FATAL PROSTATE CANCER AFTER DIAGNOSIS - Yin Cao HGM2013-ICG-1567 CIRCULAR BREAKAGE FUSION BRIDGE IN HUMAN CANCERS - Tony Papenfuss HGM2013-ICG-1721 IDENTIFICATION OF BREAST CANCER PREDISOPOSTION GENES THROUGH WHOLE EXOME SEQUENCING - Ian Campbell HGM2013-ICG-1829 MICROBIOME OF SEVERE HUMAN RESPIRATORY INFECTIONS - Ana Georgina Cobian-Guemes 13:30 - 15:30 E2 New Methods for Genetic Screens HGM2013-ICG-1246 MULTIPLEX EXPRESSION ANALYSIS USING A LIGATION-DEPENDENT NUCLEIC ACID AMPLIFICATION AND CONFORMATION-SENSITIVE CAPILLARY ELECTROPHORESIS - Gi Won Shin 13:30 - 15:30 G6 Invertebrate Genetics HGM2013-ICG-1131 LIN28, INHIBITOR OF LET-7 MIRNA MATURATION, IS NECESSARY FOR MUSCLE FORMATION AND GERMLINE STEM CELL DIFFERENTIATION IN DROSOPHILA MELANOGASTER - Vassileios Stratoulias Thursday 18 April 2013 10:00 – 12:00 E3 Population Genetics & Genomics HGM2013-ICG-1164 META-ANALYSIS IDENTIFIES NOVEL ENDOMETRIOSIS RISK LOCI IN JAPANESE AND EUROPEAN POPULATIONS - Grant W. Montgomery HGM2013-ICG-1478 RARE GENETIC VARIANTS IN HEALTH AND DISEASE: 10,000 GENOMES - THE UK10K PROJECT - Dawn Muddyman

13:30 – 15:30 Oral Presentation 6 HGM2013-ICG-1075 CAFE VARIOME: A NOVEL APPROACH FOR THE ROUTINE SHARING OF GENETIC VARIATION DATA - Owen Lancaster HGM2013-ICG-1560 ADDRESSING IDENTIFIABILITY PRIVACY ISSUES FOR RESEARCH PARTICIPANTS IN LARGE SCALE GENOMIC RESEARCH…THE EXPERIENCE OF THE INTERNATIONAL CANCER GENOME CONSORTIUM (ICGC) - Yann Joly HGM2013-ICG-1570 SAMPLE OWNERSHIP AND GENETIC RESEARCH IN INDIGENOUS COMMUNITIES - Rebekah McWhirter HGM2013-ICG-1647 A NOVEL APPROACH TO INTEGRATE GENOMICS INTO THE BIOECONOMY IN MEXICO - Santiago March HGM2013-ICG-1675 BIOMEDICAL DATA CAPTURING OF THE TUNISIAN POPULATION: TOWARDS IMPROVING MANAGEMENT OF THE GENETIC DISEASES IN NORTH AFRICA AND THE MIDDLE EAST - Sonia Abdelhak HGM2013-ICG-2009 NEGOTIATED TRANSACTIONS IN PUBLIC SPACES - Calvin Ho

All the information is correct as of 01 April 2013

69 Oral Presenter / Poster IMPACT FACTOR

Covering all areas of genetics, with a particular focus on population, evolutionary and quantitative aspects, animal and plant breeding and cytogenetics.

NATURE.COM/HDY 2011 Journal Citation Reports® (Thomson Reuters, 2012) Reuters, Reports® (Thomson Citation 2011 Journal * 70 Poster Presentation Schedule

Sunday 14 April 2013 Crop Disease Resistance HGM2013-ICG-1148 DEVELOPMENT OF ISSR-RGA MARKERS LINKED TO POWDERY MILDEW RESISTANCE IN MUNGBEAN - Piyada Alisha Tantasawat HGM2013-ICG-1355 PATHOGEN RACES AND ANTHRACNOSE DISEASE RESISTANCE BREEDING OF COMMON BEAN IN TURKEY - Muge Sayar HGM2013-ICG-1498 FUNCTIONAL GENOMIC ANALYSIS OF RICE RESISTANCE TO BLAST DISEASE (MAGNAPORTHE GRISEA) - Fatthy Mohamed Abdel-Tawab

Genetic Medicine of Metabolic Disorders HGM2013-ICG-1031 IDENTIFICATION OF POMPE DISEASE MUTATIONS IN ARCHIVAL POSTMORTEM FORMALIN-FIXED TISSUES - Aliya Saleh Alansari HGM2013-ICG-1033 LACK OF ASSOCIATION OF VITAMIN D RECEPTOR FOKI (RS10735810) (C/T) AND BSMI (RS1544410) (A/G) GENETIC VARIATIONS WITH POLYCYSTIC OVARY SYNDROME RISK: A CASE-CONTROL STUDY FROM IRANIAN AZERI TURKISH WOMEN - Morteza Bagheri HGM2013-ICG-1179 ASSOCIATION BETWEEN RARE VARIANT IN THE RECEPTOR FOR ADRENOMEDULLIN AND DIABETIC NEPHROPATHY SECONDARY TO TYPE 2 DIABETES - Clara Si Hua Tan HGM2013-ICG-1190 LEPTIN MRNA EXPRESSION IN ADIPOSE TISSUE OF POSTMENOPAUSAL WOMEN ASSOCIATED WITH METABOLIC RISK FACTORS - Sada Shiv HGM2013-ICG-1200 THE ASSOCIATION OF AMP1 GENE WITH ADIPONECTIN LEVELS AND CHARACTERISTICS OF THE INSULIN RESISTANCE SYNDROME IN HEALTHY NORTH INDIAN POPULATION - Jai Prakash HGM2013-ICG-1220 MOLECULAR GENETIC DIAGNOSTICS OF PHENYLKETONURIA IN KAZAKHSTAN - Damilya Nurgazyevna Salimbaeva HGM2013-ICG-1232 NEXT GENERATION SEQUENCING OF A FAMILY WITH A RARE SYNDROME OF INSULIN RESISTANCE, SHORT STATURE AND FACIAL DYSMORPHISM - Eleanor Raffan HGM2013-ICG-1291 EVALUATION OF BIOMARKERS CCL18 AND HEPARIN COFACTOR II THROMBIN FOR ASSESSING THERAPEUTIC EFFECTS IN LYSOSOMAL STORAGE DISORDERS - Sanjeev Kumar Pandey HGM2013-ICG-1305 ASSOCIATION OF ADIPONECTIN 45 T/G AND 276 G/T PROMOTER GENE POLYMORPHISM WITH METABOLIC SYNDROME, INSULIN RESISTANCE, SERUM ADIPONECTIN AND LEPTIN LEVELS IN ADULT WOMEN - Sandeep Kumar HGM2013-ICG-1348 MPS BRAZIL NETWORK - 1,000 CASES IDENTIFIED FROM 2004 TO 2012 - Roberto Giugliani HGM2013-ICG-1373 ACTIVATION OF THE UNFOLDED PROTEIN RESPONSE IN GAUCHER DISEASE - Mia Horowitz HGM2013-ICG-1390 VITAMIN D RECEPTOR TAQI CC GENOTYPE IS RELATED TO ONSET OF POLYCYSTIC OVARY SYNDROME RISK: A CASE-CONTROL STUDY WITHIN IRANIAN AZERI WOMEN - Mortaza Bagheri HGM2013-ICG-1468 VARIANT GENOTYPES OF PKR1 AND PKR2 IN PATIENTS OF RECURRENT PREGNANCY LOSS - Meitsz Su HGM2013-ICG-1847 DISCOVERY OF TYPE 2 DIABETES GENES USING A MULTIOMIC ANALYSIS IN A FAMILY TRIO - Heung Man Lee HGM2013-ICG-2003 SNP RS7903146 OF TCF7L2 GENETIC POLYMORPHISM MAY INFLUENCES RESPOND TO THE SITAGLIPTIN IN T2DM PATIENTS - Fatemeh Hayati HGM2013-ICG-2017 GENETIC SUSCEPTIBILITY TO DIABETES MELLITUS IN -THALASSEMIA/HBE PATIENTS - Saovaros Svasti

Genetics & Genomics for the Bioeconomy HGM2013-ICG-1879 FINGER MILLET (ELEUSINE CORACANA (L.) GAERTN.) AS PERSPECTIVE SMALL GRAIN CEREAL FOR GENE MINING AND SUSTAINABLE AGRICULTURE - Alla I. Yemets

Genetics of Immune & Autoimmune Disorders HGM2013-ICG-1069 CHARACTERIZATION OF NOVEL BTK MUTATION IN AN IRANIAN PATIENT PRESENTING VACCINE-ASSOCIATED PARALYTIC POLIOMYELITIS - Shahram Teimourian HGM2013-ICG-1093 OPISTHORCHIS FELINEUS HELMINTH INVASION MODIFIES GENETIC RISK OF ATOPIC BRONCHIAL ASTHMA AND THE DISEASE ASSOCIATED TRAITS IN RUSSIANS - Maxim B Freidin HGM2013-ICG-1094 LACK OF EVIDENCE TO REPLICATE THE YWHAB AS A CANDIDATE GENE OF CHILDHOOD ASTHMA - Maxim B Freidin

All the information is correct as of 01 April 2013

71 Poster Presentation Schedule

HGM2013-ICG-1099 GENOTYPE AND PHENOTYPE CORRELATION OF HLA GENES IN TYPE1 DIABETES MELLITUS PATIENTS - Oindrila Raha HGM2013-ICG-1118 POLYMORPHISM IN ORMDL3 IS ASSOCIATED WITH ALLERGIC ASTHMA IN SINGAPORE CHINESE POPULATION - Yang Yie Sio HGM2013-ICG-1154 COMPARISON OF METHYLATION STATUS OF IMMUNE RESPONSE GENES IN CELL-FREE DNA IN HEALTHY, HEMODIALYZED NON-DIABETIC AND HEMODIALYZED DIABETIC SUBJECTS - Marie Korabecna HGM2013-ICG-1166 IDENTIFICATION OF NOVEL ALTERNATIVE SPLICING EVENTS IN ASTHMA - Wee Kiat Jeremy Ng HGM2013-ICG-1194 GENOME WIDE ASSOCIATION STUDY IDENTIFIES NEW SUSCEPTIBILITY LOCI FOR ASTHMA IN MEXICAN POPULATION - Silvia Jiménez-Morales HGM2013-ICG-1205 ASSOCIATION OF GENES INVOLVED IN THE TYPE I INTERFERON PATHWAY WITH THE SUSCEPTIBILITY OF SYSTEMIC LUPUS ERYTHEMATOSUS IN MEXICAN MESTIZO PEDIATRIC PATIENTS - Lorena Orozco HGM2013-ICG-1236 EXOME SEQUENCING IN A PATIENT WITH IDIOPATHIC CD4+ LYMPHOCYTOPENIA IDENTIFIES NOVEL VARIANTS ASSOCIATED WITH THE DISEASE - Dejan Lazarevic HGM2013-ICG-1270 GENETIC ASSOCIATION OF NEUROPEPTIDE-Y (NPY) AND INTERLEUKIN1B (IL1B) POLYMORPHISMS WITH VITILIGO SUSCEPTIBILITY - Kriti Shah HGM2013-ICG-1280 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED ANTIGEN-4 3’UTR (AT)N REPEAT LENGTH HAS INFLUENCE ON THE PATHOGENESIS OF HASHIMOTO’S THYROIDITIS - Suad Alfadhli HGM2013-ICG-1316 ASSOCIATION OF CYTOKINE AND XENOBIOTIC DETOXIFICATION ENZYMES GENE POLYMORPHISM IN PREDISPOSITION TO BRONCHIAL ASTHMA AND CHRONIC OBSTRUCTIVE PULMONARY DISEASES IN KAZAKH POPULATION - Rakhmetkazhy Bersimbay HGM2013-ICG-1352 UNIQUE PEDIGREE REVEALS INSIGHT IN THE GENETICS OF CHILDHOOD ALLERGIC ASTHMA - Janine Altmüller HGM2013-ICG-1408 ASSOCIATION OF PSMB9 (RS17587) POLYMORPHISM WITH RHEUMATOID ARTHRITIS AND SYSTEMIC LUPUS ERYTHEMATOSUS IN THE CHINESE HAN POPULATION FROM YUNNAN - Yu Liang HGM2013-ICG-1419 VITAMIN D RECEPTOR BINDING IN PRIMARY CD4+ CELLS: RELATIONSHIP TO SERUM 25-HYDROXYVITAMIN D LEVELS AND AUTOIMMUNE DISEASE - Adam Handel HGM2013-ICG-1439 RHEUMATOID ARTHRITIS GENETIC SUSCEPTIBILITY LOCI CONTRIBUTE TO EARLY AND PROGRESSIVE RADIOGRAPHIC JOINT DAMAGE IN EARLY RA - Michael Morgan HGM2013-ICG-1452 GENE-ENVIRONMENT INTERACTION BETWEEN PRKCH AND SERUM VITAMIN D IN RELAPSE OF MULTIPLE SCLEROSIS - Rui Lin HGM2013-ICG-1466 NLRP1 GENE IS ASSOCIATED WITH AUTOIMMUNE THYROID DISEASE - Asem Alkhateeb HGM2013-ICG-1523 HLA CLASS-II REGION IS ASSOCIATED WITH NON-OBSTRUCTIVE AZOOSPERMIA IN JAPANESE PATIENTS - Timothy Adrian Jinam HGM2013-ICG-1545 THE METHYLATION PROFILE OF A MONOZYGOTIC QUADRUPLET AFFECTED BY TYPE 1 DIABETES - Giulio Disanto HGM2013-ICG-1668 FC-GAMMA RECEPTOR BIOLOGY DURING KAWASAKI DISEASE - Carline E. Tacke HGM2013-ICG-1747 INTER CELLULAR EPISTASIS BETWEEN CD39 AND FAM134B AFFECTS THE RISK OF ALLERGIC RHINITIS IN A SINGAPORE CHINESE POPULATION - R Melchiotti HGM2013-ICG-1765 IDENTIFICATION OF FUT2 AS A RISK FACTOR FOR BEHÇET’S DISEASE IN A GENOME-WIDE ASSOCIATION STUDY - Sofi a A Oliveira HGM2013-ICG-1766 AN INVESTIGATION INTO GSTP1 GENE POLYMORPHISM IN PATIENTS WITH TYPE I DIABETES - Arvand Akbari HGM2013-ICG-1795 A GROUP-SPECIFIC COMPONENTS (GC) HAPLOTYPE IS ASSOCIATED WITH ASTHMA SUSCEPTIBILITY - Shuxin Wang HGM2013-ICG-1800 HOMOZYGOUS R92Q VARIANTS IN THE TNFRSF1A GENE IN TWO SISTERS WITH TUMOR NECROSIS FACTOR RECEPTOR–ASSOCIATED PERIODIC SYNDROME - Khalid Al-Thihli

Mendelian Genetic Diseases HGM2013-ICG-1129 MOLECULAR STUDY OF ALPHA THALASSEMIA DELETION AND NON-DELETION MUTATIONS FREQUENCY IN ALPHA GLOBIN LOCUS AMONG POTENTIAL CARRIERS IN NORTH WEST OF IRAN - Maryam Ziadi

All the information is correct as of 01 April 2013

72 Poster Presentation Schedule

HGM2013-ICG-1137 THREE-WAY INTERACTIONS OF SNPS IN CHR 6Q23 AFFECTING HBF LEVELS AMONG B0-THALASSEMIA/HB E PATIENTS - Chayanon Peerapittayamongkol HGM2013-ICG-1193 GENOTYPE-PHENOTYPE CORRELATION IN INDIVIDUALS WITH Q829X MUTATION IN OTOF GENE - Nancy Gelvez HGM2013-ICG-1204 P799L TRPV4 MUTATION IN A MALAYSIAN PATIENT WITH METATROPIC DYSPLASIA - Wt Keng HGM2013-ICG-1210 LEVERAGING PHENOTYPIC PRIORS FOR DISEASE-GENE IMPLICATION IN RARE DISORDERS - Asif Javed HGM2013-ICG-1225 CLINICAL AND PHENOTYPIC HETEROGENEITY IN POLYDACTYLY AS WITNESSED IN 250 PAKISTANI SUBJECTS WITH POLYDACTYLY - Sajid Malik HGM2013-ICG-1351 WHOLE EXOME SEQUENCING FOR SIBLINGS WITH SEVERE INTELLECTUAL DISABILITY - Farah Zahir HGM2013-ICG-1353 X LINKED INTELLECTUAL DISABILITY IN TUNISIAN FAMILIES - Lamia Ben Jemaa HGM2013-ICG-1396 STATUS OF COPPER AND ZINC IN HAEMOGLOBINOPATHIES AMONG TRIBES OF CENTRAL INDIA - Chandra Bahadur Singh Dangi HGM2013-ICG-1459 THE MOLECULAR CHARACTERIZATION OF THALASSEMIA IN DAI AND BULANG ETHNIC GROUPS IN YUNNAN, CHINA - Zhaoqing Yang HGM2013-ICG-1706 GENETICS OF HEARING LOSS IN SAUDI ARABIA - Mohammed Al-Owain HGM2013-ICG-1773 A NEW BORN GIRL WITH MARFAN SYNDROME AS A RESULT OF MATERNAL GERMLINE MOSAICISM - Petra Cibulkova HGM2013-ICG-1784 FURTHER EXPANSION OF THE PHENOTYPIC SPECTRUM ASSOCIATED WITH TTF-2 MUTATIONS SEEN IN BAMFORTH-LAZARUS SYNDROME - Abeer Alsaegh

Noncoding RNAs and miRNAs HGM2013-ICG-1079 AN OVERVIEW OF NON-CODING RNA GENE NOMENCLATURE - Matt W Wright HGM2013-ICG-1150 MICRORNA EXPRESSION PROFILES IN WILD-TYPE AND TRANSGENIC CHRYSANTHEMUM MORIFOLIUM - Artem Nedoluzhko HGM2013-ICG-1337 UPREGULATION OF MIR-196A IN ESOPHAGEAL SQUAMOUS CELL CARCINOMA - Mohammad Shafi ee HGM2013-ICG-1339 MIR-338-3P IS ABERRANTLY EXPRESSED IN IRANIAN PATIENTS WITH ESOPHAGEAL SQUAMOUS CELL CARCINOMA - Mohammad Shafi ee HGM2013-ICG-1341 DIAGNOSTIC POTENTIAL OF EMBRYONIC STEM CELL MICRORNAS MIR-371-3 IN ESOPHAGEAL SQUAMOUS CELL CARCINOMA - Nader Mansour Samaei HGM2013-ICG-1397 MOLECULAR FUNCTION OF THE LONG NONCODING RNA SPRY4-IT1 IN HUMAN MELANOMAS - Ranjan J. Perera HGM2013-ICG-1516 INTERACTION BETWEEN A TRIREPEAT AND MIRNAS OF APLN IS ENVISAGED IN HIGH-ALTITUDE PULMONARY EDEMA - Perwez Alam HGM2013-ICG-1585 DISTINCT PATTERNS OF GENOMIC VARIATIONS IN THE LONG NON-CODING RNAS MARK FUNCTIONAL DOMAINS - Deeksha Bhartiya HGM2013-ICG-1590 ACTIVATION-INDUCED CYTIDINE DEAMINASE REGULATES TOPOISOMERASE1 PROTEIN BY MIRNA DURING IMMNOGLOBULIN GENE RECOMBINATION - Maki Kobayashi HGM2013-ICG-1629 TRANSCRIPTION FACTOR-MICRORNAS INTERACTION FACILITATES FINE TUNING OF BLOOD CELLS AND BLOOD VESSEL DEVELOPMENT IN ZEBRAFISH - Mukesh Kumar Lalwani HGM2013-ICG-1633 REVERSE GENETICS SCREEN IN ZEBRAFISH IDENTIFIES MICRORNAS THAT REGULATE VASCULAR DEVELOPMENT AND INTEGRITY - Mukesh Kumar Lalwani HGM2013-ICG-1637 SERUM EXPRESSION LEVELS OF MICRORNA PREDICT THE RISK OF BIOCHEMICAL FAILURE IN PROSTATE CANCER - Moray J Campbell HGM2013-ICG-1649 REASSESSING THE NON-CODING LANDSCAPE OF VERTEBRATE GENOMES - Jennifer Harrow HGM2013-ICG-1666 MIR-X: ONCOGENIC PLAYER IN ESTROGEN:BREAST CANCER LINK - Ritu Kulshreshtha HGM2013-ICG-1720 IN SILICO IDENTIFICATION OF PRECURSOR MICRORNA IN PINEAPPLE EXPRESSED SEQUENCE TAGS - Noor Hydayaty Md Yusuf HGM2013-ICG-1774 RNA-DEPENDENT DNA METHYLATION AS A MOLECULAR BASIS OF X-INACTIVATION - Volodymyr Halytskiy HGM2013-ICG-1868 DISCOVERY AND CHARACTERIZATION OF MIRNA GENES IN ATLANTIC SALMON (SALMO SALAR) BY USE OF A DEEP SEQUENCING APPROACH - Rune Andreassen All the information is correct as of 01 April 2013

73 Poster Presentation Schedule

Stem Cell Genomics HGM2013-ICG-1336 QUERCETIN PROTECTS H2O2-INDUCED DNA DAMAGE OF CULTURED MURINE BONE MARROW- DERIVED HEMATOPOIETIC STEM CELLS - Zariyantey Abdul Hamid HGM2013-ICG-1680 COMBINED EFFECT OF VASCULAR ENDOTHELIAL GROWTH FACTOR AND INSULIN-LIKE GROWTH FACTOR DURING HUMAN UMBILICAL CORD BLOOD-DERIVED MESENCHYMAL STEM CELLS DIFFERENTIATION INTO ENDOTHELIAL CELLS IN THREE DIMENSIONAL NETWORK - Mohammad Hossein Tahmasbi

Telomeres Biology and DNA replication HGM2013-ICG-1379 TELOMERE LENGTH IS ASSOCIATED WITH EXECUTIVE FUNCTION - SOUTHERN CHINESE COMMUNITY-DWELLING MALE ELDERS - Suk Ling Ma HGM2013-ICG-1511 TELOMERES EMERGE AS POTENTIAL CANDIDATE IN HIGH-ALTITUDE PHYSIOLOGY - M. A. Qadar Pasha

Transcription & Chromatin HGM2013-ICG-1362 TRANSCRIPTIONAL AND POST-TRANSCRIPTIONAL PROCESSES CONTRIBUTE TO ALLELE-SPECIFIC GENE EXPRESSION VARIATION IN THE HUMAN GENOME - Mitsutaka Kadota HGM2013-ICG-1604 CHARACTERIZATION OF THE ACVR1 GENE PROMOTER REGION - Roberto Ravazzolo HGM2013-ICG-1623 EPIGENETIC REGULATION OF LONG NONCODING RNAS SHOW DISTINCT PATTERNS IN SUBTYPES - Vinod Scaria HGM2013-ICG-1840 SEGMENTAL DOMAINS OF THE DROSOPHILA BITHORAX COMPLEX - Welcome Bender

All the information is correct as of 01 April 2013

74 Poster Presentation Schedule

Monday 15 April 2013 Animal Models of Human Diseases HGM2013-ICG-1024 FGFR2C MUTATIONS CAUSE XY DISORDERS OF SEX DEVELOPMENT IN HUMANS AND MICE - Vincent Harley HGM2013-ICG-1090 MATERNAL ALLERGEN EXPOSURE REPROGRAMS THE DEVELOPMENTAL LUNG TRANSCRIPTOME IN A RAT MODEL OF INNATE AIRWAY HYPERRESPONSIVENESS - Feige Kaplan HGM2013-ICG-1208 ONLINE MENDELIAN INHERITANCE IN ANIMALS (OMIA): A CATALOG OF NON-LABORATORY ANIMAL MODELS OF HUMAN DISEASES - Frank William Nicholas HGM2013-ICG-1245 INDUCIBLE TRANSGENIC ZEBRAFISH MODELS FOR HEPATOCELLULAR CARCINOMA - Zhiyuan Gong HGM2013-ICG-1249 IRON SPECIES INDUCED DOPAMINERGIC NEURON DEGENERATION IN DROSOPHILA - Zhi Dong Zhou HGM2013-ICG-1354 THE UNDERSTANDING OF BIOCHEMICAL AND MOLECULAR ANALYSIS OF DIABETIC RATS TREATED WITH ANDROGRAPHIS PANICULATA AND ERYTHRINA INDICA METHANOL EXTRACT - Pullagummi Chakrapani HGM2013-ICG-1561 ESSENTIALOME OF C. ELEGANS – A PLATFORM FOR HUMAN DISEASE RESEARCH - Jeffrey Shih Chieh Chu HGM2013-ICG-1626 ANTIDIABETIC ACTIVITY OF ANNONA CHERIMOLA. LINN SEED EXTRACT - Arun Jyothi Bheemagani HGM2013-ICG-1644 GENOME-WIDE ASSOCIATION STUDIES DISCOVERY FELINE MODELS OF HUMAN DISEASE - Leslie A Lyons HGM2013-ICG-1663 EXPRESSION STUDY IN ADIPOSE TISSUE IN A RAT MODEL WITH METABOLIC SYNDROME - Laura del-Bosque-Plata HGM2013-ICG-1728 A STUDY ON PERSPECTIVES BIRD FLU AMONG THE HIGHER SECONDARY LEVEL OF STUDENTS OF EASTERN NEPAL - Nabin Lamichhane HGM2013-ICG-1819 ISOLATION OF A GENOMIC REGION ON SPONTANEOUSLY HYPERTENSIVE RAT CHROMOSOME 16 AFFECTING BLOOD PRESSURE, INSULIN RESISTANCE AND DYSLIPIDEMIA - Ondrej Seda HGM2013-ICG-1864 GENE EXPRESSION PROFILING OF AN ORAL ADMINISTRATION OF CURCUMIN IN A MURINE BREAST CANCER MODEL - Premdass Ramdas HGM2013-ICG-2006 GROWTH CHARACTERISTICS OF RABBIT PRIMARY EPIDERMAL KERATINOCYTES USING SPECIFIC MARKERS - Marini Binti Marzuki HGM2013-ICG-2014 IN-VIVO COLON TUMOR IN RODENTS A CHALLENGE IN TARGETED DRUG DELIVERY - N. Ganesh

Cancer Genetics & Genomics HGM2013-ICG-1022 SYNERGISTIC EFFECT AND VEGF/HSP70-HOM HAPLOTYPE ANALYSIS: RELATIONSHIP TO PROSTATE CANCER RISK AND CLINICAL OUTCOME - Sana Sfar HGM2013-ICG-1029 SECOND HIT GENE AMPLIFICATION OF CHROMOSOME 17 IN DERMATOFIBROSARCOMA AND LEIOMYOSARCOMA AS ILLUSTRATED BY ARRAY-CGH - Jacqueline Raymond Batanian HGM2013-ICG-1072 CHROMOSOME AS ONCOGENIC ORGANIZER: MECHANISMS AND FUNCTIONAL CONSEQUENCES OF AMPLIFICATION AND DELETION SHAPED BY STRUCTURAL MUTATIONS IN BREAST CANCER - Koichiro Inaki HGM2013-ICG-1081 THE EFFECT OF PARTIAL MMR GENE EXPRESSION ON THE DNA MISMATCH REPAIR MECHANISM - Minttu Kansikas HGM2013-ICG-1097 ROLE OF HCV CORE PROTEIN IN EXPRESSION OF THE HUMAN TELOMERASE REVERSE TRANSCRIPTASE (HTERT) GENE IN HEPATOMA CELL LINES - Hussein Abdelaziz Abdalla HGM2013-ICG-1106 FUNCTIONS OF GRAINYHEAD-LIKE GENES IN SKIN CANCER - Tomasz Wilanowski HGM2013-ICG-1117 ASSOCIATION OF ALANINE-VALINE MNSOD GENE POLYMORPHISM AND MICROHETEROGENEITY MANGANESE SUPEROXIDE DISMUTASE ACTIVITY IN BREAST CANCER AND BENIGN BREAST TISSUE - Manar Atoum HGM2013-ICG-1122 EARLY DETECTION OF ENDOMETRIOSIS: INFORMATIVE GENOYPE IN IRANIAN PATIENTS - Ahmad Ebrahimi HGM2013-ICG-1134 POLYMRPHISMS IN THE HLA CLASS I AND CLASS III SUB REGION IS ASSOCIATED WITH AN INCREASED RISK OF NASOPHARYNGEAL CARCINOMA IN NORTHEAST INDIA - Meena Lakhanpal

All the information is correct as of 01 April 2013

75 Poster Presentation Schedule

HGM2013-ICG-1146 POLYMORPHISM OF XENOBIOTICS DETOXIFICATION, DNA REPAIR, APOPTOSIS AND CELL CYCLE REGULATION GENES AND CANCER SUSCEPTIBILITY - Leyla Djansugurova HGM2013-ICG-1149 THE ROLE OF DNMT1, DNMT3B AND EZH2 METHYLTRANSFERASE GENES IN ABERRANT DNA METHYLATION IN SPORADIC AND FAMILIAL COLORECTAL AND ENDOMETRIAL CANCER - Emmi I. Joensuu HGM2013-ICG-1159 DETECTING CHROMOSOMAL REARRANGEMENTS IN CANCER WITH SUREFISH PROBES - Anne Bergstrom Lucas HGM2013-ICG-1183 CHARACTERIZATION OF MUTATIONS IN BOTH PATIENT AND DONORS DURING A NON-LINEAR PROGRESSION OF LEUKEMIA USING EXOME SEQUENCING - Davide Cittaro HGM2013-ICG-1187 GERMLINE EPIMUTATIONS & NEIGHBOR GENE DELETIONS UNDERLYING LYNCH SYNDROME - Annette Gylling HGM2013-ICG-1199 POLYMORPHIC MARKERS FOR PREDICTING TREATMENT OUTCOMES OF PATIENTS WITH NON-SMALL CELL LUNG CANCER TREATED WITH FIRST LINE PACLITAXEL-CISPLATIN CHEMOTHERAPY - Shin Yup Lee HGM2013-ICG-1201 ABERANT DNA METHYLATION OF HOXA4, BUT NOT OF HOXA5 AND SOCS1, IS ASSOCIATED WITH DISEASE RESISTANCE IN CHRONIC MYELOID LEUKEMIA PATIENTS UNDERGOING IMATINIB MESYLATE TREATMENT - Marjanu Hikmah Elias HGM2013-ICG-1207 TERT GENE AMPLIFICATION STATUS IN CHRONIC MYELOID LEUKEMIA PATIENTS: APPLICATION OF TWO DIFFERENT QUANTIFICATION METHODS - Zaidatul Shakila Mohamad Ashari HGM2013-ICG-1214 COMMON DIFFERENTIAL EXPRESSION GENES OF HOMOLOGIC AND HETEROLOGIC NASOPHARYNGEAL CARCINOMA CELLS AND THEIR ASSOCIATION WITH RADIORESISTANCE - Kai Yu Tang HGM2013-ICG-1239 DETERMINATION OF MUTATIONS IN SPECIFIC EXONS OF BRCA1 AND BRCA2 IN BREAST CANCER CASES FROM BRUNEI DARUSSALAM - Mas Rina Wati Haji Abdul Hamid HGM2013-ICG-1243 DO INFLAMMATORY GENES POLYMORPHISMS AND GWAS IDENTIFIED PLCE1 GENE VARIANTS MODIFY SUSCEPTIBILITY AND PROGNOSIS OF ESOPHAGEAL CANCER? - Meenakshi Umar HGM2013-ICG-1255 SUREFISH PROBES FOR HIGH RESOLUTION DETECTION OF CHROMOSOMAL ABERRATIONS - Becky Mullinax HGM2013-ICG-1257 GENOMIC ALTERATIONS DETECTED BY TARGETED NEXT GENERATION SEQUENCING IN BETEL QUID AND TOBACCO ASSOCIATED ORAL CANCER IN INDIAN POPULATION - Dhirendra- Singh Yadav HGM2013-ICG-1268 ASSOCIATION AND FUNCTIONAL ANALYSIS OF KLK3 GENETIC VARIANTS WITH PROSTATE CANCER - Jyotsna Batra HGM2013-ICG-1273 ANALYSIS OF APC PROMOTER HYPERMETHYLATION NUMBER OF PATIENTS WITH SPORADIC COLORECTAL CANCER IN IRAN - Arezu Abdollahi HGM2013-ICG-1284 HIGH RESOLUTION GENOTYPING OF HLA-A REVEALS STRONGER ASSOCIATION OF HLA-A SINGLE SNPS COMPARED TO HLA-A ALLELE SUBTYPES TO NASOPHARYNGEAL CARCINOMA SUSCEPTIBILITY IN MALAYSIAN CHINESE - Yoon Ming Chin HGM2013-ICG-1296 FUNCTIONAL COMPENSATION OF GLUTATHIONE S-TRANSFERASE M2 (GSTM2) IN GSTM1 NULL INDIVIDUALS - Ashok Kumar Giri HGM2013-ICG-1302 PREVALENCE AND DISTRIBUTION OF BRCA1 GENE MUTATIONS IN IRANIAN WOMEN WITH BREAST CANCER - Mohammad Reza Nassiri HGM2013-ICG-1317 ANALYSIS OF FACTORS ASSOCIATED WITH THE PROGRESSION OF PRECANCEROUS TO CANCEROUS STATE IN CHROMOSOME INSTABILITY SYNDROMES - A PILOT STUDY - Alex George HGM2013-ICG-1323 STATISTICAL EVALUATION OF MINOR CLONE MUTATIONS IN LEUKEMIA - Boris Tichý HGM2013-ICG-1327 CONSECUTIVE INVESTIGATION OF GENOMIC COPY NUMBER ALTERATIONS IN PATIENTS WITH HIGH-RISK CHRONIC LYMPHOCYTIC LEUKEMIA - Sarka Pospisilova HGM2013-ICG-1343 MOLECULAR GENETICS OF BREAST CANCER IN EASTERN PROVINCE OF SAUDI ARABIA - Yutaka Amemiya HGM2013-ICG-1432 POLYMORPHISMS OF THE XRCC1, ERCC2 AND XPC GENES AND RISK OF SPORADIC COLORECTAL CANCER: A MALAYSIAN CASE-CONTROL STUDY - Abdul Aziz Ahmad Aizat HGM2013-ICG-1450 TOXICOEPIGENOMICS, DISEASE SUSCEPTIBILITY, AND RISK ASSESSMENT - Mukesh Verma HGM2013-ICG-1461 COMPREHENSIVE PROFILING OF SEROUS OVARIAN CANCER IN JAPANESE PATIENTS - Takahide Hayano

All the information is correct as of 01 April 2013

76 Poster Presentation Schedule

HGM2013-ICG-1484 TRANSIENT MYELOPROLIFERATIVE DISORDER IN DOWN SYNDROME: IDENTIFICATION OF A NOVEL GATA-1 MUTATION - Zarina Latiff HGM2013-ICG-1487 GLOBAL INACTIVATION OF THE LARGEST HUMAN GENES IN OROPHARYNGEAL CANCER - David I Smith HGM2013-ICG-1515 NON-INVASIVE DETECTION OF SOMATIC MITOCHONDRIAL MUTATIONS IN PLASMA BY MASSIVELY PARALLEL SEQUENCING IN CANCER PATIENTS - Carol W. M. Chan HGM2013-ICG-1522 ANEUPLOIDY AND POTENTIAL FLUORESCENCE IN SITU HYBRIDIZATION PROBE MARKERS FOR DIAGNOSIS AND CLASSIFICATION OF ESOPHAGEAL SQUAMOUS CELL CARCINOMA - Jia-Jie Hao HGM2013-ICG-1528 COMPARATIVE GENOMIC APPROACH FOR IDENTIFYING NOVEL IMPRINTED GENES INVOLVED IN THE NASOPHARYNGEAL CANCER PATHOGENESIS - Ashley Soosay HGM2013-ICG-1556 STUDYING THE 3 POLYMORPHISMS IN MDR1 GENE AND CORRELATION OF THEM WITH MDR1 EXPRESSION IN INDIVIDUALS WITH IN GASTRIC CANCER PATIENTS AND HEALTHY CONTROLS - Maryam Mansoori HGM2013-ICG-1580 OXIDATIVE STRESS-INDUCED CHROMOSOME REARRANGEMENTS IN NASOPHARYNGEAL CARCINOMA (NPC): THE ROLE OF APOPTOSIS - Sang Nee Tan HGM2013-ICG-1605 PATHWAY ANALYSIS OF GENOME-WIDE ASSOCIATION DATA ON HEPATOCELLULAR CARCINOMA IN SOUTHERN CHINESE PATIENTS WITH CHRONIC HEPATITIS B VIRUS INFECTION - Daniel WH Ho HGM2013-ICG-1617 GENOTOXIC AND GENE POLYMORPHIC ANALYSIS OF SMOKELESS TOBACCO USERS IN THE EASTERN GHATS OF TAMILNADU SOUTH INDIA - Ramachandran Chandirasekar HGM2013-ICG-1646 SCREENING FOR MICROSATELLITE INSTABILITY AND LOSS OF HETEROZYGOSITY IN THE DCC GENE AMONG FILIPINO PATIENTS WITH COLORECTAL ADENOCARCINOMA - Michael Ernesto Sarcia Arnante HGM2013-ICG-1725 CORRELATION AMONG MDR1, MRP AND HTERT EXPRESSION LEVEL IN COLON CANCER PROGRESSION AND DRUG RESISTANCE TO CHEMOTHERAPY - Samira Shabani HGM2013-ICG-1732 GENETICS AND RADIOGENOMICS: A TALE OF TWO REGULATORY AXES IN GLIOBLASTOMA - Sadhan Majumder HGM2013-ICG-1753 DETECTION AND EVALUATION OF BCR/ABL GENE MUTASIONS IN CML PATIENTS TREATED WITH IMATINIB MESYLATE - Farhad Zaker HGM2013-ICG-1769 LANDSCAPE OF COPY NUMBER VARIATIONS IDENTIFIES MARKERS ASSOCIATED WITH PATIENT OUTCOME AND HIGH RISK OF BRAIN SPECIFIC METASTASIS IN MELANOMA - Dave S Hoon HGM2013-ICG-1770 COMPREHENSIVE DNA METHYLATION PROFILING WITH SURESELECT TARGET ENRICHMENT SYSTEM - Chee Yang Lee HGM2013-ICG-1778 DOWN-REGULATION OF SOCS-3 BY ABERRANT METHYLATION CONFER RESISTANCE TO TYROSINE KINASE INHIBITOR IN CML - Hamid Ali Nagi Al-Jamal HGM2013-ICG-1785 ADVERSE CHANGES IN BODY COMPOSITION AMONG CANCER SURVIVORS WITH BRCA1/2 MUTATION - Aileen Caceres HGM2013-ICG-1814 TYROSINE KINASE DOMAIN MUTATIONS AND CYP3A4-CYP3A5 GENE POLYMORPHISMS IN IMATINIB RESISTANT CHRONIC MYELOID LEUKEMIA - Shantashri Vaidya HGM2013-ICG-1828 LOW BRDU CONCENTRATION INDUCED SCES AND ASSOCIATION WITH GSTT1 NULL GENOTYPE IN HEALTHY INDIVIDUALS AND MYELOID LEUKEMIA PATIENTS - Shaukat Iqbal Malik HGM2013-ICG-1831 STRATEGY FOR IDENTIFICATION, PREDICTION, AND PRIORITIZATION OF NON-CODING VARIANTS OF UNCERTAIN SIGNIFICANCE IN HERITABLE BREAST CANCER - Peter Rogan HGM2013-ICG-1833 OPTIMIZATION OF HALOPLEX PCR FOR FFPE DERIVED DNA SAMPLES - Chee Yang Lee HGM2013-ICG-1846 A SYSTEMATIC APPROACH TO CLINICAL CLASSIFICATION OF DNA SEQUENCE VARIANTS IN MISMATCH REPAIR GENES: THE INSIGHT INITIATIVE - Maurizio Genuardi HGM2013-ICG-1850 ESTABLISHMENT OF EXPRESSION SYSTEM FOR RECOMBINANT CATALYTIC DOMAIN OF HUMAN TET2 - Shea Ping Yip HGM2013-ICG-1856 DISCERNING MOLECULAR STATUS OF MN1 IN HUMAN GLIOMAS AND MENINGIOMAS - Masum Saini HGM2013-ICG-1872 EVALUATION OF RECENT GWAS-IDENTIFIED BREAST CANCER SUSCEPTIBLE LOCI IN SINGAPORE CHINESE - Shenmo Ji HGM2013-ICG-1883 ASSOCIATION OF P53 PRO72ARG SNP PRESENCE AND PCA RISK IN PAKISTANI POPULATION - Muhammad Ismail

All the information is correct as of 01 April 2013

77 Poster Presentation Schedule

HGM2013-ICG-2008 ANALYSES OF DNA VARIANTS IN KELANTAN MALAYS AND CHINESE WITH HEREDITARY NON POLYPOSIS COLORECTAL CANCER : A PRELIMINARY STUDY - Wan Khairunnisa Binti Wan Juhari HGM2013-ICG-2015 ELUCIDATING ONCOGENIC POTENTIAL GENES HARBORING WITHIN THE AMPLICON LOCUS OF BREAST CANCERS - Yu Wing Edward Chee HGM2013-ICG-2018 HER-2/NEU ILE655VAL POLYMORPHISM AND RISK OF BREAST CANCER. A CASE – CONTROL STUDY - Awatif Siddig HGM2013-ICG-2020 DIFFERENTIAL EXPRESSION OF MICRORNAS USING URINE SAMPLES FROM PROSTATE CANCER IN MEXICAN PATIENTS - Mauricio Rodriguez-Dorantes HGM2013-ICG-2023 LONG SPAN DNA PAIRED-END-TAG (DNA-PET) SEQUENCING STRATEGY FOR THE INTERROGATION OF GENOMIC STRUCTURAL MUTATIONS AND FUSION-POINT-GUIDED RECONSTRUCTION OF AMPLICONS - Fei Yao

Genetic Medicine of Cardiovascular Disorders HGM2013-ICG-1091 MUTATION IN PHOSPHOSPHOLAMBAN - A KEY REGULATOR OF CARDIAC DIASTOLIC FUNCTION CAUSE INHERITED CARDIOMYOPATHY - N. Gnanaveera Subhashini HGM2013-ICG-1143 MOLECULAR CYTOGENETICS CHARACTERIZATION OF 22Q11.2 DELETION IN PATIENTS WITH TETRALOGY OF FALLOT - Bibhas Kar HGM2013-ICG-1269 CARDIOVASCULAR DISEASE PROFILING FOR FILIPINOS: MEDICAL INFORMATICS, BIOBANKS, AND GENOMICS - Maria Luisa De Guzman Daroy HGM2013-ICG-1359 BIOBIN: A MULTI-LEVEL BINNING TOOL BASED ON PRIOR BIOLOGICAL KNOWLEDGE TO ANALYZE SEQUENCE DATA - Carrie Moore HGM2013-ICG-1534 ANALYSIS OF ATHEROSCLEROSIS SUSCEPTIBILITY REGION IN RYR3 GENE - Chenxi Zhao HGM2013-ICG-1538 FAMILIAL PULMONARY ARTERIAL HYPERTENSION: BMPR2 GENE MUTATION FINDINGS IN A VENEZUELAN FAMILY - Rosa A Cedeno HGM2013-ICG-1595 FAMILIAL CLINICAL POLYMORPHISM DICTATES THE STRATEGY OF DNA DIAGNOSTICS IN PATIENTS WITH PRIMARY CARDIOMYPATHIES - Elena Zaklyazminskaya HGM2013-ICG-1599 STR LOCI AS A GENETIC FACTORS PREDISPOSED TO CORONARY HEART DISEASE (BASED ON TATARSTAN’S POPULATION STUDY) - Olga Kravtsova HGM2013-ICG-1607 FUNCTIONAL POLYMORPHISMS OF MMP 1 AND ENOS GENES IN CORONARY ARTERY DISEASE - Kondapalli Mrudula Spurthi HGM2013-ICG-1611 MOLECULAR GENETIC STUDY OF ABDOMINAL AORTIC ANEURYSM IN MEN - Motoji Sawabe HGM2013-ICG-1642 GENETIC POLYMORPHISM RS6922269 FROM THE MTHFD1L GENE PREDICTS SURVIVAL IN PATIENTS FROM A POST-ACUTE CORONARY SYNDROMES COHORT AND IS ASSOCIATED WITH BASELINE ACTIVE VITAMIN B12 LEVELS - Barry R Palmer HGM2013-ICG-1660 NEXT-GENERATION SEQUENCING WITH IN-SOLUTION TARGET HYBRIDIZATION IN A LONG QT SYNDROME TRIO - Linda Seo Hwee Gan HGM2013-ICG-1723 ANGIOTENSIN I CONVERTING ENZYME POLYMORPHISM AS A POSSILE BIOMARKER FOR CORONARY ARTERY DISEASE SUSCEPTIBILITY - Mandana Hasanzad HGM2013-ICG-1793 NOVEL UNKNOWN SEQUENCE VARIANTS FOUND IN CZECH PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY - Petra Cibulkova HGM2013-ICG-1821 VALIDATION OF HIGH RESOLUTION MELTING (HRM) METHOD FOR ATP2B1 RS2681472 SNP GENOTYPING USING HUMAN BLOOD SAMPLES OBTAINED FROM A NATIONAL NUTRITION SURVEY - Mark Pretzel Parungao Zumaraga HGM2013-ICG-2002 MUTATIONAL SCREENING OF BMPR2 IN PATIENTS WITH CONGENITAL CARDIOVASCULAR MALFORMATIONS - Huay Lin Tan HGM2013-ICG-2019 EARLY TRANSCRIPTOMIC RESPONSE TO NATIVE AND OXIDIZED LOW-DENSITY LIPOPROTEIN IN HUMAN VASCULAR SMOOTH MUSCLE CELLS - Juan Pablo Reyes-Grajeda

Human Metagenomics HGM2013-ICG-1151 METAGENOMIC ANALYSIS USING LONG 16S AMPLICONS AND THE ROCHE 454 GS FLX+ PLATFORM - Ovidiu Ruecker HGM2013-ICG-2016 METAGENOMICS AND THE ROLE OF MICROBIAL COMMUNITIES IN LIVER CANCER - Mahmoud M. ElHefnawi

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78 Poster Presentation Schedule

Neurogenetics HGM2013-ICG-1115 SLC1A2 VARIANT ASSOCIATED WITH ESSENTIAL TREMOR - Swe Swe Thet Paing HGM2013-ICG-1195 IS PARK16 A PROTECTIVE FACTOR IN ASIAN PARKINSON’S DISEASE? - Aroma Agape Gopalai HGM2013-ICG-1262 GENETIC VULNERABILITY OF SEROTONIN AND GABANERGIC PATHWAYS IN ALCOHOL DEPENDENCE: FIRST STUDY ON INDIAN POPULATION - Meera Vaswani HGM2013-ICG-1263 DELETION OF PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 4 (PTPN4) RESULTS IN A RETT SYNDROME–LIKE PHENOTYPE - Sarah Louise Williamson HGM2013-ICG-1266 R3HDM1, A NUCLEIC ACID BINDING GENE - Ai Sze Ching HGM2013-ICG-1271 EVALUATION OF THE LINK BETWEEN ZFHX3 AND NINJ2 WITH ISCHEMIC STROKE - Ebonne Ng HGM2013-ICG-1276 ANALYSIS OF LRRK2 VARIANTS IN ESSENTIAL TREMOR - XW Heng HGM2013-ICG-1283 NITRIC OXIDE SYNTHASES (NOS1, NOS2A AND NOS3) AND MULTIPLE SCLEROSIS - Suad Alfadhli HGM2013-ICG-1293 MUTATION, EXOME SEQUENCING AND LINKAGE ANALYSES IN TURKISH CMT FAMILIES - Esra Battaloglu HGM2013-ICG-1335 CLINICAL CORRELATION OF ATTENTION DEFICIT HYPERACTIVITY DISORDER (ADHD) INDIVIDUALS SUFFERING FROM AUTISM SPECTRUM DISORDER (ASD) IN SOUTH INDIAN POPULATION - S Rajiv HGM2013-ICG-1491 CONSANGUINITY AND NEURAL TUBE DEFECTS IN A HOSPITAL POPULATION - Nuzhat Nauman HGM2013-ICG-1562 AUTOSOMAL RECESSIVE CEREBELLAR HYPOPLASIA WITH CANDIDATE GENE LOCUS ON CHROMOSOME 22Q IDENTIFIED BY WHOLE GENOME SEQUENCING - Alice Abdel Aleem HGM2013-ICG-1606 DIAGNOSIS OF WILLIAM-BEUREN SYNDROME: IS THERE A TECHNIQUE OF CHOICE? - Pankaj Sharma HGM2013-ICG-1648 FGF17 AND EBF2, TWO GENES INVOLVED IN CEREBELLAR DEVELOPMENT, ARE DYSREGULATED IN A PATIENT WITH DANDY WALKER MALFORMATION CARRYING A DE NOVO 8P21.3 DELETION - Ginevra Zanni HGM2013-ICG-1767 MOLECULAR ANALYSIS OF AN DELETION HOTSPOT IN NRXN1 REGION REVEALS THE INVOLVEMENT OF SHORT INVERTED REPEATS IN DELETION CNVS - Xiaoli Chen HGM2013-ICG-1854 GENERATION OF AN ISOGENIC IPSC CAG ALLELIC PANEL TO STUDY HUNTINGTON DISEASE - Jolene Ooi

Recombination and Cell Cycle HGM2013-ICG-1661 BIP ASSOCIATES WITH IRE1A AND INDUCES ER STRESS-MEDIATED APOPTOSIS IN CHONDROGENESIS - Fengjin Guo HGM2013-ICG-1163 CODON-CORRECTION INFRAMING APPROACH FOR DYSTROPHIN GENE MUTATION CORRECTION IN MALAYSIAN PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY - Abdul Qawee Rani

Therapies for Genetic Diseases HGM2013-ICG-1537 CHEMOINFORMATIC SOLUTIONS FOR THE IDENTIFICATION AND OTIMIZATION OF AGENTS FOR THE TREATMENT OF B-THALASSAEMIA - Stella Voskou Tropical Parasites HGM2013-ICG-1794 HONEY BEE VIRUS DETECTION AND PREVALENCE IN MADAGASCAR AFTER VARROA DESTRUCTOR INVASION - Adrien Speck

Veterinary Genetics HGM2013-ICG-1559 STUDY ON THE RELATIONSHIP BETWEEN SNPS OF THE ZYXIN GENE EXON1 AND CARCASS TRAITS IN THE JINGHAI YELLOW CHICKEN - Guojun Dai HGM2013-ICG-1711 DETECTION OF BOVINE CYTOMEGALOVIRUS DNA IN ABORTED BOVINE FETUSES BY POLYMERASE CHAIN REACTION (PCR) - Narges Ahani HGM2013-ICG-1867 MICROARRAY ANALYSIS OF DIFFERENTIAL GENE EXPRESSION UNDER COLD STRESS IN PASHMINA GOATS OF LADAKH REGION - Nazir Ahmed Ganai HGM2013-ICG-1874 MOLECULAR EPIDEMIOLOGIC RESEARCH ON MULTIPLE GENETIC DISEASES IN PURE DOG BREEDS: A SIMULATION ANALYSIS OF PREVENTION - Keijiro Mizukami HGM2013-ICG-ABS- GRANULOCYTE/MACROPHAGE COLONY-STIMULATING FACTOR (GM-CSF) 1043 POLYMORPHISMS INFLUENCE T CELL PROLIFERATION Hso - Chi Chaung HGM2013-ICG-ABS- ASSOCIATIONS OF TNF-A GENETIC VARIATION WITH THE FUNCTIONAL PHENOTYPE 1044 OF T SUBSETS - Hso-Chi Chaung

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79 Poster Presentation Schedule

Tuesday 16 April 2013 Behavioural Genetics HGM2013-ICG-1160 LOG ON TO THE WEB –OPPORTUNITIES AND CHALLENGES FOR HUMAN RESEARCH IN THE DIGITAL AGE - Anjali Henders HGM2013-ICG-1338 BIOLOGICAL PATHWAYS OF MUSICAL APTITUDE - Jaana Oikkonen HGM2013-ICG-1517 EFFECTS OF COMT AND MTHFR ON NORMAL VARIATION OF MENTAL HEALTH IN A JAPANESE POPULATION - Nay Chi Htun HGM2013-ICG-1658 ASSOCIATION OF FUNCTIONAL POLYMORPHISMS IN CANDIDATE GENES DAT1 AND DRD4, AND NEUROPSYCHOLOGICAL CHARACTERISTICS IN ATTENTION AND EXECUTIVE FUNCTIONS OF PATIENTS WITH ADHD IN A SAMPLE OF CENTRAL COLOMBIA - Maria Cristina Pinto

Comparative Genetics HGM2013-ICG-1128 INSERTION/DELETION POLYMORPHISMS DO PLAY ANY ROLE IN G6PD DEFICIENCY INDIVIDUALS IN THE KINGDOM OF THE SAUDI ARABIA - Khalid Khalaf Alharbi HGM2013-ICG-1861 CHARACTERIZATION OF DIFFERENTIALLY EXPRESSED PROTEINS FROM TWO DEVELOPMENTAL STAGES OF THE PINEAPPLE (ANANAS COMOSUS VAR. COMOSUS) FRUIT BY 2-D GEL ELECTROPHORESIS AND MASS SPECTROMETRY - Nor Hidayu Mohd Jamil

Computational Biology HGM2013-ICG-1070 DECIPHERING THE GENETIC COMPLEXITY OF CELLULAR SIGNALING BY COMBINED ANALYSIS OF PLEIOTROPY AND EPISTASIS - Gregory W Carter HGM2013-ICG-1126 ANALYSIS OF G6PD ENZYME DEFICIENCY IN SAUDI POPULATION - Alharbi Khalid Khalaf HGM2013-ICG-1182 SCANV - INTERPRETING CANCER VARIANTS - Vidhya G. Krishnan HGM2013-ICG-1227 COMPUTATIONAL DISCOVERY OF GENETIC AND EPIGENETIC REGULATORY MECHANISMS OF MEIOTIC RECOMBINATION HOTSPOTS - Jie Zheng HGM2013-ICG-1287 IDENTIFICATION OF FUNCTIONAL PHENOTYPIC SNPS - A PILOT STUDY OF LAMIN-A MUTATIONS - Kaavya Mohanasundaram HGM2013-ICG-1346 COMPUTER ANALYSIS OF GENE EXPRESSION IN BRAIN TUMOR CELLS USING NEXT GENERATION SEQUENCING - Yuriy L Orlov HGM2013-ICG-1415 DISCOVERY OF NOVEL INHIBITORS FOR NEK6 PROTEIN THROUGH HOMOLOGY MODEL ASSISTED STRUCTURE-BASED VIRTUAL SCREENING AND MOLECULAR DOCKING APPROACHES - Pappu Srinivasan HGM2013-ICG-1448 PREDICTING THE FUNCTIONAL CONSEQUENCES OF PROTEIN MISSENSE VARIANTS USING HIDDEN MARKOV MODELS - Hashem Shihab HGM2013-ICG-1535 DETECTION OF NOVEL TRANSCRIPTS OF Y CHROMOSOME THROUGH RNA-SEQ DATA ANALYSIS IN HUMAN EMBRYONIC STEM CELL - Mehdi - Sharifi Tabar HGM2013-ICG-1564 A COMPUTATIONAL PIPELINE FOR DETECTING TANDEM REPEAT COPY NUMBER VARIANTS IN NEXT-GENERATION SEQUENCING DATA: ANALYSIS OF THE 454 WATSON GENOME - Gary Benson HGM2013-ICG-1571 IDENTIFICATION OF GENES DIFFERENTIALLY EXPRESSED IN LARGE DATA SETS USING LOGISTIC REGRESSION AND RECEIVER-OPERATOR-CHARACTERISTIC (ROC) CURVE - Van Luu-The HGM2013-ICG-1602 COMPUTATIONAL ANALYSIS OF CHIP-SEQ DATA AND ITS APPLICATION TO EMBRYONIC STEM CELLS - Feng Lin HGM2013-ICG-1609 THE GENCODE GENESET: WHAT MORE IS THERE TO FIND? - Jane Loveland HGM2013-ICG-1620 CORRELATION OF RNA AND PROTEIN EXPRESSION PROFILES IDENTIFIES BIOMARKERS OF THE HOST RESPONSE TO INFECTIOUS DISEASE - Myrsini Kaforou HGM2013-ICG-1628 INFERRING DELETERIOUS AND TOLERANT SINGLE-NUCLEOTIDE POLYMORPHISMS AMONG GENES ENCODING PEROXISOME-TARGETED PROTEINS - Christian Schönbach HGM2013-ICG-1632 EPIGENOME-WIDE ASSOCIATION STUDIES: QUALITY CONTROL AND ANALYSIS - Benjamin Lehne HGM2013-ICG-1673 LIGAND BASED PHARMACOPHORE MODELLING OF ACETYLCHOLINESTERASE INHIBITORS FOR THE IDENTIFICATION OF MORE EFFECTIVE INHIBITORS FOR THE TREATMENT OF ALZHEIMER’S DISEASE - Jaspreet Kaur Dhanjal HGM2013-ICG-1676 NOVEL GENE PREDICTION FOR MTB CCDC5079 AND REDEFINING TARGETS FOR DRUG DESIGNING USING GENOME TO HIT APPROACH - Poonam Saini

All the information is correct as of 01 April 2013

80 Poster Presentation Schedule

HGM2013-ICG-1677 SELECTIVE INHIBITION OF CYCLOOXYGENASE-2 BY PICRORHIZA KURROA’S KEY METABOLITE KUTKOSIDE - Sudhanshu Sharma HGM2013-ICG-1688 C/EBPBETA, E2F-1 AND MAZ ARE PREDICTED AS A PUTATIVE TRANSCRIPTION FACTOR FOR REGULATING RBM8A GENE EXPRESSION IN TAR SYNDROME - Vahid Reza Yassaee HGM2013-ICG-1695 KAPOSI’S SARCOMA: UNDERSTANDING PROTEIN-PROTEIN INTERACTION AND GENE REGULATORY NETWORKS THROUGH A COMPUTATIONAL APPROACH - Aubhishek Zaman HGM2013-ICG-1760 DEVELOPMENT OF BARCODES FOR TARGETED SEQUENCING OF 1,000 SAMPLES IN ONE SEQUENCING RUN - David Wang HGM2013-ICG-1841 COMPUTATIONAL PREDICTION OF STRUCTURALLY AND/OR FUNCTIONALLY IMPORTANT AMINO ACID RESIDUES OF HUMAN TET2 USING ASSOCIATIVE PATTERN OF CONSENSUS SEQUENCE ENSEMBLES - Shea Ping Yip HGM2013-ICG-1862 ELUCIDATION OF MECHANISM ASSOCIATED WITH THE BETA-1 ADRENERGIC RECEPTOR SUPPRESSION BY WITHANIA SOMNIFERA’S KEY METABOLITE WITHAFERIN A - Sujata Roy HGM2013-ICG-1870 AN IMPROVED SIMILARITY BASED METHOD FOR PREDICTION OF ANTI CANCER COMPOUNDS USING PUBCHEM FINGERPRINTS - Harinder Singh

Crop Stress Tolerance HGM2013-ICG-1170 MAPPING OF PEARL MILLET GENE BASED MARKERS UNDERLYING DROUGHT TOLERANT QTL ACROSS SORGHUM, RICE AND RYEGRASS - Richa Singh HGM2013-ICG-1470 PRETREATMENT WITH H2O2 ENHANCED THE HEAT TOLERANCE OF FESTUCA ARUNDINACEA AND LOLIUM PERENNE - Yan Wang HGM2013-ICG-1502 CHANGES OF LIGNIN AND CELLULOSE CONTENTS IN PERENNIAL RYEGRASS BY DOWNREGULATION GENES OF CCR1 AND CAD1 - Xin-Rong Ma HGM2013-ICG-1505 PRETREATMENT WITH H2O2 ENHANCED THE HEAT TOLERANCE OF FESTUCA ARUNDINACEA AND LOLIUM PERENNE - Yan Wang HGM2013-ICG-1514 A MYB TRANSCRIPTION ACTIVATOR, BNPHR1, INVOLVED IN PHOSPHATE STARVATION REGULATION OF BRASSICA NAPUS IS MODULATED BY AUXIN IN ROOTS - Feng Ren HGM2013-ICG-1539 PROTEOME ANALYSIS OF KENAF SEEDLINGS UNDER SALT STRESS - Jiantang Xu HGM2013-ICG-1839 COMPARISON OF AGROBACTERIUM MEDIATED TRANSFORMATION OF OSDREB AND OSHOX GENE EXPRESSION LEAD TO DROUGHT TOLERANCE IN RICE (ORYZA SATIVA) - Andrio Adimuktiwibowo

Developmental Genetics HGM2013-ICG-1008 HOW TO BECOME A SCIENTIST IN GENETICS IN THE NEW CENTURY - Day Na HGM2013-ICG-1032 POLYMORPHISM OF CYTOKINE GENES AND PREGNANCY LOSS - Elena Mashkina HGM2013-ICG-1086 A RARE CASE OF CRANIOFACIAL MALFORMATION WITH ITS POSSIBLE GENETIC BACKGROUND - Lokadolalu Chandracharya Prasanna HGM2013-ICG-1133 CONDITIONAL MUTATIONS IN DROSOPHILA AND STUDY OF DEVELOPMENT - Nina Borisovna Fedorova HGM2013-ICG-1324 HETEROSIS FOR SEED YIELD AND YIELD COMPONENTS IN INDIAN MUSTARD [BRASSICA JUNCEA (L.) CZERN & COSS ] - Arvind D Patel HGM2013-ICG-1325 COMBING ABILITY FOR SEED YIELD AND YIELD COMPONENTS IN INDIAN MUSTARD [BRASSICA JUNCEA (L.) CZERN & COSS ] - Arvind D Patel HGM2013-ICG-1326 COMBING ABILITY FOR IMPORTANT QUANTITATIVE CHARACTERS IN BIDI TOBACCO (NICOTIANA TABACUM L.) - Arvind D Patel HGM2013-ICG-1328 STABILITY ANALYSIS FOR GRAIN YIELD AND ITS COMPONENTS IN PEARL MILLET [PENNISETUM GLAUCUM (L.) P. BR.] - Arvind D Patel HGM2013-ICG-1329 HETEROSIS FOR GRAIN YIELD AND ITS COMPONENTS IN PEARL MILLET [PENNISETUM GLAUCUM (L.) P. BR.] - Arvind D Patel HGM2013-ICG-1330 COMBING ANALYSIS FOR GRAIN YIELD AND ITS COMPONENTS IN PEARL MILLET [PENNISETUM GLAUCUM (L.) P. BR.] - Arvind D Patel HGM2013-ICG-1331 GENETIC DIVERSITY STUDIES IN RESTORER LINES OF PEARL MILLET [PENNISETUM GLAUCUM (L.) R. BR.] USING RAPD MARKERS - Arvind D Patel HGM2013-ICG-1332 BIOTIC AND ABIOTIC STRESS RESISTANT VARIETY OF BIDI TOBACCO : ABT 10 - Arvind D Patel

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81 Poster Presentation Schedule

HGM2013-ICG-1333 TOBACCO OIL : A GOOD ALTERNATE SOURCE FOR CONVENTIONAL USE - Arvind D Patel HGM2013-ICG-1334 PHENOTYPIC STABILITY IN QUANTITATIVE TRAITS OF BIDI TOBACCO (NICOTIANA TABACUM L.) - Arvind D Patel HGM2013-ICG-1411 A NOVEL DE NOVO MUTATION IN THE ARISTALESS DOMAIN OF THE ARX GENE IN A SRI LANKAN MALE CHILD WITH ACQUIRED MICROCEPHALY, PSYCHOMOTOR DELAY AND AMBIGUOUS GENITALIA - Nirmala Dushyanthi Sirisena HGM2013-ICG-1421 ATF6 UPREGULATION XBP1S AND INHIBITS ER STRESS-MEDIATED APOPTOSIS IN CHONDROGENESIS - Fengjin Guo HGM2013-ICG-1429 IDENTIFICATION OF QTL ASSOCIATED WITH POD SHATTER RESISTANCE AND SELECTION OF CANDIDATE GENES IN RAPESEED - Zhiyong Hu HGM2013-ICG-1431 MATERNAL EFFECTS AND GENETIC IMPROVEMENT OF SEED OIL CONTENT IN BRASSICA NAPUS - Han Zhong Wang HGM2013-ICG-1442 DELINEATION OF THE CLINICAL, MOLECULAR AND CELLULAR ASPECTS OF NOVEL JAM3 MUTATIONS UNDERLYING THE AUTOSOMAL RECESSIVE HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION AND CONGENITAL CATARACTS - Nadia Awni Akawi HGM2013-ICG-1463 A FASCICLIN-LIKE ARABINOGALACTAN PROTEIN, GHFLA1, IS INVOLVED IN FIBER INITIATION AND ELONGATION OF COTTON (GOSSYPIUM HIRSUTUM) - Xue-bao Li HGM2013-ICG-1513 THE MATERNAL CYTOPLASMIC ENVIRONMENT MAY BE INVOLVED IN THE VIABILITY SELECTION OF GAMETES AND ZYGOTES - Chenwu Xu HGM2013-ICG-1518 COTTON PIP2 PROTEINS SELECTIVELY INTERACT TO REGULATE THEIR WATER CHANNEL ACTIVITIES AND ARE REQUIRED FOR FIBER DEVELOPMENT - Li Dengdi HGM2013-ICG-1584 STABILITY ANALYSIS FOR SEED YIELD AND ITS ATTRIBUTES IN INDIAN MUSTARD [BRASSICA JUNCEA (L.) CZERN & COSS ] - Arvind D Patel HGM2013-ICG-1587 HETEROSIS FOR IMPORTANT QUANTITATIVE CHARACTERS IN BIDI TOBACCO (NICOTIANA TABACUM L.) - Arvind D Patel HGM2013-ICG-1643 INTEGRATED RNA-SEQ AND BIOINFORMATICS APPROACH HIGHLIGHTS A ROLE OF MIR-204 IN AXON GUIDANCE - Stefania Merella HGM2013-ICG-1726 UBUNTU FOR ANDROID UBUNTU FOR ANDROID - Rohit Malik HGM2013-ICG-1758 REGION-CENTRIC ANALYSIS ON THE INFINIUM 450K ARRAY: AN AGING EXAMPLE - Mei Lyn Ong HGM2013-ICG-1762 A SYSTEMATIC SURVEY OF CARBONIC ANHYDRASE MRNA EXPRESSION DURING MAMMALIAN INNER EAR DEVELOPMENT - Ling Wu

Environmental Genomics HGM2013-ICG-1059 CLINICAL CHARACTERISTICS AND OUTCOME OF SEPSIS – A PERSPECTIVE FROM A TERTIARY CARE HOSPITAL IN KARACHI, PAKISTAN:SEPSIS AND GENETICS - Shahla Siddiqui HGM2013-ICG-1139 INDIVIDUAL GENOTYPES DETERMINING THE RADIOSENSITIVITY AND RADIORESISTENSE OF POPULATION LIVING CLOSE TO FORMER SEMIPALATINSK NUCLEAR TEST SITE - Bakytzhan Bekmanov HGM2013-ICG-1203 CYTOGENETIC STUDY OF SHEEPS FROM ECOLOGICALLY ADVERSE REGIONS OF KAZAKHSTAN - Aizhan Mussayeva HGM2013-ICG-1380 ENVIRONMENTAL GENOMICS OF MICROBIAL COMMUNITIES IN BIOREMEDIATION: ISSUES AND INTRICACIES - Dr.Alluri VENKATA Nagavarma HGM2013-ICG-1844 THE GENETIC BASIS OF HIGH ELEVATION ADAPTION IN THE ASIATIC TOAD, BUFO GARGARIZANS: COMPARATIVE TRANSCRIPTOME AND GENE EXPRESSION PROFILE ANALYSIS - Jinzhong Fu HGM2013-ICG-1863 RAPID DETECTION OF THE MARINE PATHOGENIC BACTERIA VIBRIO HARVEYI USING LOOP- MEDIATED ISOTHERMAL AMPLIFICATION (LAMP) OF DNA AND LATERAL FLOW DIPSTICK (LFD) - Ahmad Mukhlis Bin Abdul Rahman

Flowering Plant Genetics HGM2013-ICG-1464 CLONING AND SEQUENCE ANALYSIS OF URIDINE DIPHOSPHATE GLUCOSE PYROPHOSPHORY LASE (UGPASE) IN JUTE (CORCHORUS CAPSULARIS L) - Jian-Min Qi HGM2013-ICG-1481 COTTON PRP5 GENE ENCODING A PROLINE-RICH PROTEIN IS INVOLVED IN FIBER DEVELOPMENT - Wenliang Xu

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82 Poster Presentation Schedule

HGM2013-ICG-1482 USE OF WEAK MUTAGENS IN WHEAT BREEDING - Nargul Omirbekova HGM2013-ICG-1488 INHERITANCE OF MORPHOLOGICAL TRAITS IN TRANSGENIC COWPEA CROSSES - Saba Baba Mohammed HGM2013-ICG-1520 NUCLEOTIDE POLYMORPHISMS AND HAPLOTYPE DIVERSITY OF RTCS GENE IN CHINA ELITE MAIZE INBRED LINES - Zefeng Yang HGM2013-ICG-1601 ARABIDOPSIS MADS-DOMAIN FLOWERING COMPLEXES COORDINATE RESPONSES TO ENDOGENOUS AND ENVIRONMENTAL CUES TO MODULATE FLOWERING TIME - Yuehui He HGM2013-ICG-1734 SENSITIVITY OF THREE NIGERIAN SESAME VARIETIES TO FAST NEUTRON IRRADIATION - Olamide Falusi HGM2013-ICG-1805 REGULATION OF SHOOT APICAL MERISTEM FORMATION BY SEUSS AND SEUSS-LIKE 2 IN ARABIDOPSIS - John Golz

Genetics of Aging and Senescence HGM2013-ICG-1300 ROLE OF TELOMERIC REGULATION IN ARSENIC INDUCED SENESCENCE LEADING TO CARCINOGENESIS - Debmita Chatterjee HGM2013-ICG-1650 DETERMINING THE KEY ROLE OF THE GWAS-IMPLICATED OSTERIX IN HUMAN BONE USING CHIP-SEQ - Struan F.A. Grant HGM2013-ICG-1757 TELOMERE LENGTH IN HUNTINGTON DISEASE - Meera Purushottam HGM2013-ICG-1853 NOVEL CNVS IN PATIENTS WITH PARKINSON’S DISEASE REVEALED BY ACGH WITH HIGH-DENSITY OLIGONUCLEOTIDE MICROARRAYS IN SIB PAIRS - Marek Bodzioch

Genetics of Eye Diseases HGM2013-ICG-1191 MOLECULAR STUDIES FOR CRYAA GENE IN A COLOMBIAN FAMILY WITH AUTOSOMAL DOMINANT CONGENITAL CATARACT - Nancy Gelvez HGM2013-ICG-1290 DYSREGULATION OF LINCRNAS IN PTERYGIUM PATHOGENESIS - Wanwen Lan HGM2013-ICG-1426 PROTEIN PHOSPHATASE MAGNESIUM DEPENDENT 1A (PPM1A) REGULATES INFLAMMATIONS AND ANGIOGENESIS IN HUMAN AND MOUSE THROUGH P38 DEPHOSPHORYLATION - Sara Lavi HGM2013-ICG-1563 GSTM1 AND GSTP1 GENE POLYMORPHISMS IN DIABETIC RETINOPATHY - Nasim Abbasi

Genetics of Infectious Diseases HGM2013-ICG-1169 FAST SPECIES IDENTIFICATION AND MULTIPLEX DETECTION AND OF MYCOPLASMA USING REAL-TIME PCR - Seung Yong Lee HGM2013-ICG-1209 ASSOCIATION ANALYSIS OF HLA CLASS II AND LEPROSY IN THAI POPULATION - Sukanya Wattanapokayakit HGM2013-ICG-1241 QUANTITATIVE ANALYSIS OF EV71 IN HUMAN GASTROINTESTINAL CELL LINE - Yan Long Edmund Lui HGM2013-ICG-1265 GENETIC VARIANTS IN INNATE IMMUNITY GENES AND CHEMOKINE LIGANDS MODULATE IMMUNE RESPONSE TO CHOLERA VACCINATION - Neeta Sarkarroy HGM2013-ICG-1297 HLA-G 14PB POLYMORPHISM ON HIV VERTICAL TRANSMISSION - Ana Paula Morais Fernandes HGM2013-ICG-1299 HLA-G 3’UTR POLYMORPHISM IN HIV/HCV COINFECTION - Ana Paula Morais Fernandes HGM2013-ICG-1307 HLA-DQ ALLELES AND SUSCEPTIBILITY TO CUTANEOUS LEISHMANIASIS IN SRI LANKA - Nilakshi Samaranayake HGM2013-ICG-1321 COPY NUMBER OF CCL3L1 GENE : A POTENTIAL RISK FACTOR FOR HIV-1/AIDS IN INDIAN POPULATION - Suhani Almal HGM2013-ICG-1407 PAN GENOME ANALYSIS PROVIDES EVIDENCE OF HOMOLOGOUS RECOMBINATION DRIVING THE INTRA SPECIES VARIATION WITHIN BURKHOLDERIA PSEUDOMALLEI, A HUMAN PATHOGEN - Tannistha Nandi HGM2013-ICG-1496 NOD2 AND CCDC122 GENES ARE ASSOCIATED TO LEPROSY SUSCEPTIBILITY IN BRAZILIAN POPULATION - Ana Carla Pereira HGM2013-ICG-1552 CHARACTERIZATION OF HIV-1 SUBTYPES AND DETERMINATION OF GENOTYPIC PROFILE OF PROTEASE INHIBITORS AMONG TREATMENT-NAÏVE HIV-1 INFECTED INDIVIDUALS IN JOS, NIGERIA - Joseph Anejo-Okopi HGM2013-ICG-1615 PAN-GENOME ARCHITECTURE OF MYCOBACTERIUM TUBERCULOSIS REVEAL STRAIN SPECIFIC DIFFERENCES IN GENE REPERTOIRE - Vinita Periwal

All the information is correct as of 01 April 2013

83 Poster Presentation Schedule

HGM2013-ICG-1635 INVESTIGATING THE CELLULAR AND MOLECULAR MECHANISMS OF MEMBRANE VESICULATION AND DEFINING CLINICAL USEFUL INHIBITORS IN CEREBRAL MALARIA - Duangdao Nantakomol HGM2013-ICG-1678 TUMOR NECROSIS FACTOR–A (TNF)–A GENE POLYMORPHISMS AND SUSCEPTIBILITY IN LEPROMATOUS LEPROSY PATIENTS IN TAMIL NADU, SOUTH INDIA - A CASE-CONTROL STUDY - Sundramoorthy Arun HGM2013-ICG-1694 PUBLIC HEALTH IMPLICATIONS OF LIVESTOCK ASSOCIATED METHICILLIN RESISTANT STAPHYLOCOCCUS AUREUS (LA-MRSA): A GENOMIC ANALYSIS - Lok Raj Joshi HGM2013-ICG-1710 DETECTION OF HUMAN CYTOMEGALOVIRUS IN BREAST CANCER BY POLYMERASE CHAIN REACTION (PCR) - Narges Ahani HGM2013-ICG-1809 DIFFERENTIAL HOST GENETIC SUSCEPTIBILITY IS ASSOCIATED WITH MANIFESTATION OF TUBERCULOSIS AS PULMONARY AND EXTRA-PULMONARY TUBERCULOSIS IN NORTH INDIANS - Abhimanyu HGM2013-ICG-1857 IDENTIFICATION OF NOVEL GENES ASSOCIATED WITH ISONIAZID RESISTANCE IN MYCOBACTERIUM TUBERCULOSIS, USING WHOLE-GENOME SEQUENCING - Ann Siew Gek Lee HGM2013-ICG-1890 CURATE TB: AN INTEGRATED PLATFORM FOR SYSTEMATIC MINING OF MANUALLY CURATED DATA ON MYCOBACTERIUM TUBERCULOSIS - Anshu Bhardwaj

Genomic Technology (Sequencing) HGM2013-ICG-1147 GENOMIC DNA SCREENTAPE SIMPLIFIES THE ASSESSMENT OF GENOMIC DNA QUANTITY, INTEGRITY AND QUALITY - Donna Mcdade Walker HGM2013-ICG-1171 COMPARATIVE ANALYSIS BETWEEN SEQUENCE ANALYSIS OF NEXT GENERATION SEQUENCING RESULTS AND SPECIES IDENTIFICATION MICROARRAY FOR THE FISH CAKE - Seung Yong Lee HGM2013-ICG-1180 MITOCHONDRIAL DNA SEQUENCING FOR DETECTING DISEASE OR TRACKING ETHNIC GROUP BY USING NEXT-GENERATION SEQUENCING TECHNIQUES - Jeong Jin Ahn HGM2013-ICG-1242 SEQ+FA: A SIMPLE METHOD FOR IMPROVING THE LIMIT OF MUTATION DETECTION FOR CAPILLARY ELECTROPHORESIS DNA SEQUENCING - Edgar Schreiber HGM2013-ICG-1250 MULTIPLEX SEQUENCING USING MULTICOLOR FLUOROMODULES - Yin Nah Teo HGM2013-ICG-1358 RE-SEQUENCING THE HUMAN GENOME REFERENCE SEQUENCE - Stephan C. Schuster HGM2013-ICG-1533 HIGH RESOLUTION PROFILING OF FETAL DNA CLEARANCE FROM MATERNAL PLASMA - Stephanie C. Y. Yu HGM2013-ICG-1540 CONSTRUCTION OF LEAF FULL- LENGTH CDNA LIBRARY WITH SMART TECHNIQUE IN KENAF HIBISCUS CANNABINUS L. - Jian-Min Qi HGM2013-ICG-1549 NOVEL TARGETED SEQUENCING-BASED CNV DETECTION FRAMEWORK ALLOWS FINE-MAPPING OF THE CFH REGION IN 120 CHINESE SINGAPOREANS WITH AMD - Evangelos Bellos HGM2013-ICG-1551 A NOVEL APPROACH OF STUDYING PROTEASE FUNCTION USING HIGH THROUGHPUT SEQUENCING (HTS) TECHNOLOGY - Kärt Tomberg HGM2013-ICG-1569 CUSTOM TARGETED RESEQUENCING METHODS IN A CLINICAL DIAGNOSTIC SETTING: GENETIC TESTING FOR EARLY INFANTILE EPILEPTIC ENCEPHALOPATHIES - Gladys Ho HGM2013-ICG-1574 PROFOUND IMPACT OF LIBRARY PREPARATION PROTOCOLS ON DOWNSTREAM ANALYSIS OF RNA-SEQ DATA: COMPARISON OF POLYA SELECTION AND NUGEN PROTOCOL - Zhifu Sun HGM2013-ICG-1616 VALIDATION OF THE NEXT- AND THE NEXT-NEXT-GENERATION SEQUENCERS USING HUMAN BAC DNA - Takashi Hirano HGM2013-ICG-1630 DE NOVO IDENTIFICATION OF PATHOGENS USING A HOLOGENOME SEQUENCING APPROACH - A Patowary HGM2013-ICG-1741 A COMPLETE SYSTEM FOR NEXT-GENERATION SEQUENCING WORKFLOW: FROM AUTOMATED ASSAY DESIGN AND LIBRARY PREPARATION TO SUPERIOR SEQUENCING RESULTS - Camila Egidio HGM2013-ICG-1817 SEQUENCING OF THE HUMAN EXOME USING HALOPLEX PCR - Chee Yang Lee HGM2013-ICG-1838 FAST AND STREAMLINED WORKFLOW FOR PREPARING DIRECTIONAL RNA SEQ LIBRARIES FROM TOTAL RNA - Charmian Cher

All the information is correct as of 01 April 2013

84 Poster Presentation Schedule

Hybrids, Speciation HGM2013-ICG-1541 A MAJOR BREAKTHROUGH OF BREEDING AND HETEROSIS UTILIZATION OF CYTOPLASMIC MALE STERILE LINES INSENSITIVE TO PHOTOPERIOD IN KENAF HIBISCUS CANNABINUS L. - Jian-min Qi HGM2013-ICG-1656 ANALYSIS OF GENES SUPPRESSING THE LETHAL HYBRID RESCUE BETWEEN DROSOPHILA MELANOGASTER AND D. SIMULANS - Kyoichi Sawamura

Non-Flowering Plants HGM2013-ICG-1750 USING BRYOPHYTE MODELS TO INVESTIGATE LAND PLANT EVOLUTION - John Bowman HGM2013-ICG-1849 BIOINFORMATIC ANALYSIS OF THE MOSS KINOME: GOING DOWN THE STAIRWAY OF EVOLUTION - Yaroslav B. Blume HGM2013-ICG-2007 ENGINEERING PRIMARY METABOLITE PRODUCTION BY SILENCING HOMOGENTISATE PHYTYLTRANSFERASE GENE IN AMARANTH AND LEEK - Umaiyal Munusamy

Pharmacogenomics & Personalised Medicine HGM2013-ICG-1132 ASSOCIATING DETAILED DRUG DATA WITH CANDIDATE GENES PREDICTED BY GENTREPID - Mani P. Grover HGM2013-ICG-1145 GENOTYPE AND ALLELE FREQUENCIES OF CYP2C9 AND CYP2C19 IN EMIRATI POPULATION RESIDING IN UAE - Naushad Rais HGM2013-ICG-1185 SANGER’S SEQUENCING AND BENCH-TOP NEXT GENERATION SEQUENCING (NGS) REVEALED A NOVEL MUTATION (H126D) IN HEPATOCYTE NUCLEAR FACTOR-1 (HNF-1A) GENE ASSOCIATED WITH MATURITY ONSET DIABETES OF THE YOUNG TYPE 3 (MODY3) - Clara Si Hua Tan HGM2013-ICG-1188 SNP PROFILING OF DRUG RESPONSE IN CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA - Agata Wesolowska HGM2013-ICG-1215 DEVELOPING EVIDENCE BASED GUIDELINES TO FACILITATE USE OF PERSONALISED MEDICINE AND PHARMACOGENOMICS BY HEALTHCARE PROFESSIONALS - Nilofar Daneshi HGM2013-ICG-1221 NGS IN CLINICAL DIAGNOSTICS: FROM MONOGENIC DISORDERS TO WHOLE-GENOME SEQUENCING - Arseny Smirnov HGM2013-ICG-1282 GENOTYPIC CHARACTERIZATION OF A PATIENT FROM SINGAPORE WITH CLINICAL FEATURES OF HEPATOCYTE NUCLEAR FACTOR 1B-MATURITY ONSET DIABETES OF THE YOUNG (HNF1B-MODY) - Yong Mong Bee HGM2013-ICG-1344 EFFECT OF ANTIPSYCHOTIC DRUGS ON GLOBAL DNA METHYLATION AND DNA METHYLTRANSFERASE 1 EXPRESSION IN CELL LINES - B Swathy HGM2013-ICG-1527 PHARMACOGENETICS OF ACENOCOUMAROL IN PATIENTS WITH CEREBRAL VENOUS THROMBOSIS - Tanima De HGM2013-ICG-1557 HIGH PLASMA EFAVIRENZ CONCENTRATION AND CYP2B6 POLYMORPHISMS IN THAI HIV-1 INFECTIONS - Chonlaphat Sukasem HGM2013-ICG-1566 VALIDATION OF A NOVEL MUTATION (H126D) IN HEPATOCYTE NUCLEAR FACTOR-1 (HNF-1A) GENE ASSOCIATED WITH MATURITY ONSET DIABETES OF THE YOUNG TYPE 3 (MODY3) USING THE PERSONAL GENOME MACHINE (PGM) - Clara Si Hua Tan HGM2013-ICG-1582 PHARMACOGENOMIC DIVERSITY IN SINGAPOREAN POPULATIONS - Liam Brunham HGM2013-ICG-1614 PRECISION MEDICINE THROUGH PHARMACOGENOMICS: THE OPENPGX INITIATIVE - Ayesha Pasha HGM2013-ICG-2011 EFFECT OF PALM OIL TOCOTRIENOL RICH FRACTION (TRF) ON GENE EXPRESSION IN KELOID FIBROBLAST - Nurul Fatihah Bt Azman

Pre-implantation Genetics/Diagnostics HGM2013-ICG-1435 DETECTION OF BETA-THALASSAEMIA MUTATIONS IN PRENATAL DIAGNOSIS USING PYROSEQUENCING - Sherry Sze-Yee Ho HGM2013-ICG-1722 HIGH RESOLUTION OLIGO-ARRAY CGH ANALYSIS OF SINGLE CELLS - Charmian Cher

All the information is correct as of 01 April 2013

85 Poster Presentation Schedule

Wednesday 17 April 2013 Biobanking HGM2013-ICG-1366 COMPARATIVE QUALITY AND YIELDS OF DNA/RNA CO-EXTRACTION FROM BONE MARROW: AN APPLICATION FOR RARE SAMPLES - Amelia Dale Wallace HGM2013-ICG-1655 DEVELOPING A NATIONAL ETHICAL GUIDELINE ON BIOBANKS: HISTORICAL AND SOCIAL CONTEXT OF KOREA - Il Hak Lee

Biodiversity & Landscape Genetics HGM2013-ICG-1161 GENETIC DIVERSITY OF RHIZOBIA THAT NODULATE EGYPTIAN CLOVER (TRIFOLIUM AL EXANDRINUM) IN EGYPT - Omar Mohamed Zayed HGM2013-ICG-1579 UNIQUENESS OF A CENTIPEDE VENOM AND DIVERSITY OF ITS TOXINS - Weijian Hua HGM2013-ICG-1586 THE POSSIBLE BENEFITS OF HETEROSIS AND GENETIC DIVERSITY FOR SUCCESSFUL COLONIZATION OF HIGHLY DEGRADED LANDS - Sonia Trujillo-Argueta HGM2013-ICG-1624 CRYPTIC DIVERSITY AND HIGH GENETIC DIVERGENCE OF FRESHWATER FAUNA IN A DEGRADED, HUMAN DOMINATED LANDSCAPE: IMPLICATIONS FOR BIODIVERSITY CONSERVATION - Ling Ming Tsang HGM2013-ICG-1698 DIVERSITY AND PHYLOGENY ASSESSMENT OF ECTOPARASITES IN BIRDS AT ARIGNAR ANNA ZOOLOGICAL PARK, CHENNAI, SOUTH INDIA - Shobana Ganesan

Ethical Controversies in Genetics & Genomics HGM2013-ICG-1095 LEGAL AND ETHICAL CHALLENGES ASSOCIATED WITH WHOLE GENOME SEQUENCING - Margaret Frances Otlowski HGM2013-ICG-1272 INTERGENERATIONAL ETHICAL IMPLICATIONS OF EPIGENETICS - Michele Loi HGM2013-ICG-1554 GENETIC DISCRIMINATION AND LIFE INSURANCE: A SYSTEMATIC REVIEW OF THE EVIDENCE - Yann Joly HGM2013-ICG-1572 THE CRISIS IN GENETICS EDUCATION AND ITS IMPACT ON SOCIETY - Michael Linich

Forensic Genetics HGM2013-ICG-1211 GENETIC VARIATIONS IN 12S RRNA OF MITOCHONDRIAL IN THREE INDIAN CIVET (VIVERRIDAE) SPECIES: IMPLICATION IN FORENSICS - Bheem Dutt Joshi HGM2013-ICG-1592 ABSENCE OF GENETIC DIFFERENCES BETWEEN THREE MAJOR TRIBAL UNIONS IN KAZAKH POPULATION DEMONSTRATED BY GENETIC ANALYSIS OF X-CHROMOSOMAL MICROSATELLITES - Vadimst Stepanov HGM2013-ICG-1884 GENERATION OF SUCCESSFUL DNA PROFILES FROM THE PITS AND PEELS OF 24 EDIBLES AND THEIR USE IN FORENSICS - Mudassar Naseer

Fungal Genetics HGM2013-ICG-1113 USING FISSION YEAST AS A SYSTEM TO INTERROGATE THE MODE OF ACTION OF CHEMOTHERAPEUTIC DRUG DOXORUBICIN - Eesin Chen HGM2013-ICG-1577 SEQUENCE ANALYSIS OF AN ABA GENE CLUSTER IN BOTRYTIS CINEREA TB-3-H8 - Hong Tan

Genetic Databases & Privacy HGM2013-ICG-1751 FOUR GENOMIC NUMBERS ( N, K, K’, K’’) FOR TAGGING OF GENOMES USING EMBEDDED PASCAL TRIANGLES EXPANSION - Wajdi Mohamed Ratemi HGM2013-ICG-1780 INTEGRATED WEB-BASED PLATFORM FOR EVALUATING GENOTYPE-PHENOTYPE CORRELATION FOR HUMAN MITOCHONDRIAL DNA - Anshu Bhardwaj

Global Health HGM2013-ICG-1254 MULTIPLEX AND SENSITIVE DETECTION OF INFECTIOUS PATHOGENS USING STUFFER-FREE MLPA-CE-SSCP - Boram Chung HGM2013-ICG-1420 DEMOGRAPHIC SURVEY OF ANTIBIOTIC USE IN BANGLADESH - Md. Mirazul Islam HGM2013-ICG-1445 ECONOMIC POWER AND DEVELOPMENT OF GLOBAL HEALTH GOVERNANCE - Santosh Kumar Mishra HGM2013-ICG-1475 COMMUNICATION SYSTEM IN THE SAMSUM ANT, PACHYCONDYLA SENNAARENSIS, ITS VENOM CAUSES APOPTOSIS IN THE HUMAN BREAST CANCER - Mohammed Iqbal Siddiqui

All the information is correct as of 01 April 2013

86 Poster Presentation Schedule

HGM2013-ICG-1477 MORPHOMETRICAL AND HISTOLOGICAL ANALYSIS OF LIVER FROM FEMALE ALBINO RAT FED ON GENETICALLY MODIFIED COTTON SEEDS THROUGH MULTIGENERATIONAL STUDIES - Megha Kansal HGM2013-ICG-1597 PRESERVING HEALTH OF WOMEN AND CHILDREN – GLOBAL INTERVENTIONS REQUIRED - Seetharam Chittoor Jhansi HGM2013-ICG-1638 GENETIC STUDIES OF TYPE 2 DIABETES MELLITUS IN INDIAN POPULATION - M Saraswati HGM2013-ICG-1755 ASSOCIATION OF ADAM33 GENE POLYMORPHISMS WITH GENETIC SUSCEPTIBILITY TO ASTHMA IN ASIAN POPULATIONS: A META-ANALYSIS - Priya Tripathi HGM2013-ICG-1845 THE PREVALENCE OF TOXOPLASMA GONDII (TG) INFECTION DETECTED THROUGH ELISA IN COMPARISON TO TAQMAN REAL-TIME PCR - Nor Fatini Adam HGM2013-ICG-2013 THE PREVALENCE OF CYP2D6 GENE POLYMORPHISMS AMONG FILIPINOS AND THEIR USE AS BIOMARKERS FOR CANCER RISK AMONG THOSE WITH LUNG CANCER - Eva Maria Cutiongco- de la Paz

Invertebrate Genetics HGM2013-ICG-1361 ACTIN, ‘AN IDEAL MOLECULAR MARKER’ FOR THE PHYLOGENETIC ANALYSIS OF NEMATODES - Barsha Baral HGM2013-ICG-1483 HOW VITELLOGENIN AND OTHER LARGE LIPID TRANSFER PROTEINS EVOLVE? THE CONTEMPORARY MOST COMPREHENSIVE PHYLOGENETIC AND GENOMIC STUDY OF THIS GENE SUPERFAMILY IN ANIMALS - Ka Hou Chu HGM2013-ICG-1759 GENOME-WIDE ASSOCIATION STUDIES OF INSECTICIDE RESISTANCE - Charles Robin

Mammalian Genetics HGM2013-ICG-1107 NOVEL MOLECULAR ROLE OF GRAINYHEAD–LIKE 1 TRANSCRIPTION FACTOR - Magdalena Pawlak HGM2013-ICG-1278 GLUTATHIONE PEROXIDASE1 AND GLUCOSE -6- PHOSPHATE DEHYDROGENASE GENE POLYMORPHISMS IN VITILIGO SUSCEPTIBILITY: GENOTYPE – PHENOTYPE CORRELATION - Mohmmad Shoab Mansuri HGM2013-ICG-1345 LOW DOSE IRRADIATION OF THE TESTIS CAUSES LEYDIG CELL HYPERPROLIFERATION - Kirstine Belling HGM2013-ICG-1416 HAND PREFERENCE IN NIGER REPUBLIC - Ahmadu Usman Dahiru HGM2013-ICG-1418 GENETIC ASSOCIATION OF INTERLEUKIN-10 (IL10) POLYMORPHISMS WITH TYPE 2 DIABETES MELLITUS SUSCEPTIBILITY - Kirti Parwani HGM2013-ICG-1681 DISSECTING THE ALTERNATIVE SPLICING EVENT FOR THE FORMATION OF MILTENBERGER BLOOD GROUP ANTIGEN SUBTYPE III (GP.MUR) - Kate Hsu HGM2013-ICG-1703 ASSOCIATIONS OF DIFFERENTIAL EXPRESSION OF PLIN GENE WITH TAIL AND SLAUGHTERING TRAITS IN SHEEP - Wen Zhong Liu HGM2013-ICG-1822 THE EARLY PHASE GENOME WIDE TRANSCRIPTION PROFILING OF BOVINE MACROPHAGES INFECTED WITH STAPHYLOCOCCUS AUREUS IN VITRO - Anna Lewandowska-Sabat

New Methods for Genetic Screens HGM2013-ICG-1213 RAPID ANTENATAL DETECTION OF COMMON CHROMOSOME ANEUPLOIDIES BY QUANTITATIVE FLUORESCENCE POLYMERASE CHAIN REACTION (QF-PCR) – THE KKH EXPERIENCE - Yuen Ming Tan HGM2013-ICG-1369 REPORT ON THE FIRST 1,000 NEWBORNS SCREENED FOR MPS VI IN A HIGH-INCIDENCE AREA OF NORTHEAST BRAZIL SCREENING FOR MPS VI IN A HIGH-INCIDENCE AREA OF NORTHEAST BRAZIL - Roberto Giugliani HGM2013-ICG-1428 THE PRESENCE OF LUNG-DERIVED MRNA TRANSCRIPTS IN HUMAN PLASMA - Rebecca Chan HGM2013-ICG-1437 PREDICTION OF EARLY-ONSET PRE-ECLAMPSIA BY COMBINATION OF PLACENTAL GROWTH FACTOR (PLGF) AND SOLUBLE TUMOR NECROSIS FACTOR RECEPTOR 1 (TNFR1) IN THE FIRST TRI-MESTER - Markku Ryynanen HGM2013-ICG-1474 NEW APPROACH IN MOLECULAR DIAGNOSIS OF TAR SYNDROME - Vahid Reza Yassaee HGM2013-ICG-1504 NONINVASIVE TWIN ZYGOSITY ASSESSMENT AND TRISOMY 21 DIAGNOSIS BY MATERNAL PLASMA DNA SEQUENCING - James Z. Z. Qu

All the information is correct as of 01 April 2013

87 Poster Presentation Schedule

Population Genetics & Genomics HGM2013-ICG-1016 ENVIROGENOMIC RISK PROFILING TO PREDICT CLINICAL OUTCOMES IN CROHN’S DISEASE PATIENTS - Bushra Nasir HGM2013-ICG-1135 ASSOCIATION OF STAT4 POLYMORPHISM WITH ALLERGIC DISEASES IN SINGAPORE ETHNIC CHINESE POPULATION - Yan’E Elizabeth Neo HGM2013-ICG-1155 GENOME WIDE ASSOCIATION STUDIES (GWAS) ASSOCIATED POLYMORPHISMS IN MIGRAINE SUSCEPTIBILITY: A REPLICATION STUDY FROM NORTHERN INDIA - Jayashri Ghosh HGM2013-ICG-1158 TEST FOR GENE-ENVIRONMENT INTERACTIONS IN HIGH-THROUGHPUT GENETIC STUDIES - Xinyi Lin HGM2013-ICG-1162 A CROSS-SECTIONAL STUDY OF HERV-H PREVALENCE IN THE LOCAL POPULATION OF SINGAPORE - Wee Hong Woo HGM2013-ICG-1165 THE DISTRIBUTION OF THE ENDOGENOUS RETROVIRUS HERV-K113 AMONG ADOLESCENTS - Wee Hong Woo HGM2013-ICG-1173 GENETIC POLYMORPHISMS IN ADRB2 ARE ASSOCIATED WITH ALLERGIC ASTHMA IN AN ETHNIC SINGAPORE CHINESE POPULATION - Trixy Fang HGM2013-ICG-1196 GWAS IDENTIFIES PNMT AS AN ASTHMA CANDIDATE GENE IN AN ETHNIC CHINESE POPULATION IN SINGAPORE - Fiona Teo HGM2013-ICG-1206 GLOBAL FOOTPRINTS OF NATURAL SELECTION ON THE TOLL-LIKE RECEPTOR GENES ACROSS FOUR CONTINENTS PROVIDE EVIDENCE OF PURIFYING SELECTION - Souvik Mukherjee HGM2013-ICG-1212 USING PATHWAY APPROACH TO STUDY OBESITY RELATED METABOLIC TRAITS WITH GENETIC VARIANTS AND HORMONE EXPRESSIONS - Po-Hsiu Kuo HGM2013-ICG-1219 DETERMINING THE EFFECTS OF GENETIC POLYMORPHISM IN CLDN1 ON THE DEVELOPMENT OF ATOPIC DERMATITIS - Jie Ying Jacklyn Neo HGM2013-ICG-1224 CA6: A NOVEL CANDIDATE GENE FOR ATOPIC DERMATITIS - Bani Kaur Suri HGM2013-ICG-1226 SINGLE NUCLEOTIDE POLYMORPHISMS IN KALLIKREIN 14 IN ASSOCIATION WITH ATOPIC DERMATITIS - Sri Anusha Matta HGM2013-ICG-1229 GLOBAL DNA METHYLATION AND MRNA EXPRESSION OF MBD2 IN PERIPHERAL BLOOD LEUKOCYTES AND ASSOCIATION OF MBD2 POLYMORPHISMS WITH SCHIZOPHRENIA IN SOUTH INDIAN POPULATION K - R Sarada Lekshmi HGM2013-ICG-1251 RELATIONSHIP BETWEEN SPLICING OF THE TRANSCRIPTS AND ACTIVITY OF THE ENZYME AT THE ACPH LOCUS IN THE JAPANESE POPULATION OF DROSOPHILA VIRILIS - Hiroko Kitagawa HGM2013-ICG-1253 TRANSLATIONAL AND CLINICAL UTILITY OF THE HUMAN MAJOR HISTOCOMPATIBILITY COMPLEX - e Nisha Pillai HGM2013-ICG-1256 ELN-LIMK 1 LOCUS IN 7Q11 AND INTRACRANIAL ANEURYSM –A SOUTH INDIAN PERSPECTIVE - Sathyan Sanish HGM2013-ICG-1264 HIGH THROUGHPUT MOLECULAR CHARACTERISATION OF ALPHA- AND BETA-GLOBIN GENE MUTATIONS USING QUANTITATIVE REAL-TIME PCR - Siew Leng Kho HGM2013-ICG-1274 MARRIAGE PATTERNS AND CONSANGUINITY IN MOROCCO - Hinde Hami HGM2013-ICG-1279 GENOME-WIDE ASSOCIATION OF LIPID PROFILES IN THE KOREAN CHILDREN - Han Byul Jang HGM2013-ICG-1301 ASSESSING INTERACTIONS BETWEEN THE ASSOCIATIONS OF COMMON GENETIC SUSCEPTIBILITY VARIANTS AND DIETARY FIBER INTAKE WITH SERUM TRIGLYCERIDES CONCENTRATIONS IN A KOREAN GENOME-WIDE STUDY - Lee Hye-Ja HGM2013-ICG-1308 DECIPHERING THE CNV MULTI-HIT MODEL IN THE HEALTHY FINNISH POPULATION - Chakravarthi Kanduri HGM2013-ICG-1313 GENOTYPING DATA SUGGEST HYPOTHESIS OF INTRODUCTION OF SIBERIAN STURGEON INTO CASPIAN SEA - Sergey Rastorguev HGM2013-ICG-1314 DEFINING THE LANDSCAPE OF COPY NUMBER VARIATION IN THE QATARI POPULATION - Khalid Fakhro HGM2013-ICG-1315 COMPREHENSIVE MAP OF COPY NUMBER VARIATIONS IN INDIAN POPULATION - Harish Padh HGM2013-ICG-1319 HUMAN MITOCHONDRIAL SEQUENCES AND ARCHAEOLOGICAL EVIDENCE SHOW ANCIENT LONG-DISTANCE MIGRATIONS FROM CENTRAL ASIA TO VOLGA BASIN, UP TO EASTERN FENNOSCANDIA - Sanni Översti HGM2013-ICG-1322 THE INHERITANCE OF MICROSATELLITE LOCI OF TETRAPLOID STURGEON SPECIES - Anna Barmintseva

All the information is correct as of 01 April 2013

88 Poster Presentation Schedule

HGM2013-ICG-1360 BIOFILTER 2.0 FOR ADVANCED PREDICTIVE MODEL DEVELOPMENT, TESTING, AND HYPOTHESIS GENERATION USING EXPERT DOMAIN KNOWLEDGE RESOURCES - Sarah Pendergrass HGM2013-ICG-1403 THE HUGO PAN-ASIAN POPULATION GENOMICS INITIATIVE (PAPGI) - Jong Bhak HGM2013-ICG-1404 DISSECTION OF TWO QTLS LINKED IN REPULSION FOR GRAIN WEIGHT IN RICE (ORYZA SATIVA L.) - Jie-Zheng Ying HGM2013-ICG-1410 A NOVEL TRANSMISSION-BASED ASSOCIATION TEST FOR MULTIVARIATE PHENOTYPES - Saurabh Ghosh HGM2013-ICG-1447 COMBINED EFFECTS OF THE UGT1A1 AND OATP2 GENE POLYMORPHISMS INVOLVED IN BILIRUBIN METABOLISM ON NEONATAL HYPERBILIRUBINEMIA - Malay Biswanath Mukherjee HGM2013-ICG-1451 MITOCHONDRIAL DNA HAPLOGROUP DIVERSITY IN IRANIAN AZERI POPULATION - Ardeshir Bahmanimehr HGM2013-ICG-1458 STATISTICAL FRAMEWORK FOR DISSECTION OF COMPLEX CYTONUCLEAR EPISTASIS BASED ON RECIPROCAL MATING DESIGN - Zaixiang Tang HGM2013-ICG-1462 FINE MAPPING OF POSITIVE SELECTION SIGNALS IN MALAY - Xuanyao Liu HGM2013-ICG-1467 THE HUGO PAN-ASIAN POPULATION GENOMICS INITIATIVE (PAPGI) - Papgi Hugo HGM2013-ICG-1469 GENETIC INTERACTIONS OF ADRB2 AND NOS3 INFLUENCE CLINICAL, BIOCHEMICAL AND EXPRESSION LEVELS IN HYPERTENSION - Samantha Kohli HGM2013-ICG-1490 GENOME WIDE ASSOCIATION STUDIES AND SYSTEMS GENETICS INVESTIGATIONS OF DAILY FEED INTAKE AND FEEDING BEHAVIOR TRAITS IN THREE PIG BREEDS - Haja N Kadarmideen HGM2013-ICG-1501 SCREENING THE MUTATIONS ON THE G6PD GENE ENCODING FOR B+A DOMAIN IN VIETNAMESE KINH POPULATION - Anh Thi Lan Dang HGM2013-ICG-1524 GENOME-WIDE COMPARISON OF ESTIMATED RECOMBINATION RATES BETWEEN POPULATIONS - Fan Qiao HGM2013-ICG-1526 ANALYSIS OF RARE COPY NUMBER VARIANTS IN HEALTHY INDIVIDUALS AND INDIVIDUALS WITH ID - Vaidutis Kuüinskas HGM2013-ICG-1530 A SURVEY OF COMMON CODING SEQUENCE VARIATION IN TAIWANESE HAN POPULATION - Ya-Chi Lin HGM2013-ICG-1544 POPULATION ANALYSIS OF A FRAME-SHIFT GENETIC VARIANT THAT CREATES A NOVEL INTERFERON LAMBDA 4 PROTEIN (IFNL4) - Ludmila Prokunina-Olsson HGM2013-ICG-1546 IDENTIFICATION OF MUTATIONS WITHIN CONENZYME BINDING DOMAIN AND SUBSTRATE BINDING SITE OF G6PD GENE IN VIETNAMESE G6PD DEFICIENT PATIENTS - Trinh Huynh HGM2013-ICG-1575 GENOMIC DNA FROM SALIVA SAMPLES STORED >5 YEARS IN ORAGENE® CHEMISTRY AT ROOM TEMPERATURE IS EQUIVALENT TO DNA FROM FRESHLY COLLECTED SAMPLES - Rafal Iwasiow HGM2013-ICG-1581 Y CHROMOSOME THE MAIN DETERMINANT IRRESPECTIVE OF SPERMIOGRAM- A NEW INSIGHT FOR FERTILITY - Anju Kumari HGM2013-ICG-1588 INTERPLAY BETWEEN MOLECULES OF VASCULAR HOMEOSTASIS AND THEIR INTERACTION WITH HYPOBARIC HYPOXIA OF HIGH-ALTITUDE - Aastha Mishra HGM2013-ICG-1589 GENETIC BUILD UP TO HIGH-ALTITUDE PHYSIOLOGY: HOW MUCH DO WE UNDERSTAND? - M A Qadar Pasha HGM2013-ICG-1594 KOREA PERSONAL GENOME PROJECT PROGRESS REPORT: WHOLE-GENOME SEQUENCING AND ANALYSIS OF 28 KOREAN INDIVIDUALS - Young-Ah Shin HGM2013-ICG-1603 COMPARING METHODS FOR PERFORMING TRANS-ETHNIC META-ANALYSIS OF GENOME-WIDE ASSOCIATION STUDIES - Xu Wang HGM2013-ICG-1652 ADH1B GENE AND DRINKING BEHAVIOUR IN POPULATIONS OF RUSSIA - Nick Yankovsky HGM2013-ICG-1662 HERITABILITY ESTIMATES OF LINEAR BODY MEASUREMENTS OF 12 MONTHS OLD CALVES AT FASHOLA STOCK FARM IN SOUTHWESTERN NIGERIA - Antigha Essien HGM2013-ICG-1686 PAKISTANI HUMAN GENOME - Muhammad Ilyas HGM2013-ICG-1743 GENETIC VARIATION OF THE ASIAN SNAKEHEAD FISH, CHANNA STRIATA (BLOCH 1793), IN SABAH (NORTH BORNEO) AS REVEALED BY MICROSATELLITE MARKERS - Noor Haniza Amit HGM2013-ICG-1772 THE STUDY OF MOLECULAR BASIS OF LACTOSE INTOLERANCE IN SABAH, MALAYSIA - Nur Ashikin Gandah

All the information is correct as of 01 April 2013

89 Poster Presentation Schedule

HGM2013-ICG-1779 SINGLE NUCLEOTIDE POLYMORPHISMS AND COPY NUMBER VARIATIONS INDICATES THAT THE RUNGUS ETHNIC GROUP OF SABAH, MALAYSIAN BORNEO, IS DIFFERENT FROM OTHER SOUTHEAST ASIANS - Chee Wei Yew HGM2013-ICG-1816 CHARACTERISATION OF THE GENETIC DIVERSITY BETWEEN AND AMONG POPULATIONS OF THE ASIAN HORSESHOE CRAB IN SABAH USING MICROSATELLITE MARKERS - Sai Kerisha Kntayya HGM2013-ICG-1881 GENOME ARABIA: AT LAST! - Fahd Al-Mulla HGM2013-ICG-1886 DROSOPHILA SELECTION FOR BACILLUS CEREUS RESISTANCE - Lawrence Harshman HGM2013-ICG-2001 FCI RIII GENE POLYMORPHISMS IN ASSOCIATION WITH PERIODONTAL TISSUE DESTRUCTION IN MALAY PATIENTS - Azlina Ahmad HGM2013-ICG-2004 PHYLOGENETIC RELATIONSHIPS OF PENINSULAR MALAYSIA ORANG ASLI AND MALAY SUB-ETHNICS GROUP - Nurfazreen Bt Mohd Nasir HGM2013-ICG-2005 HAPLOTYPE FREQUENCY OF VKORC1, GENOTYPE FREQUENCY OF CYP2C9 VARIANTS AND CLOTTING FACTOR VII LEVELS IN WARFARIN-TREATED MALAY POPULATION - Yung An Chua HGM2013-ICG-2010 VARIATION AND MUTATION DATABASE OF MALAYSIAN NODE OF HUMAN VARIOME PROJECT - Abdul Halim Fikri Bin Hashim HGM2013-ICG-2012 A STUDY ON MOLECULAR PHYLOGENY OF SELECTED ORANG ASLI IN PENINSULAR MALAYSIA USING RAG 2 GENE - Sarina Bt Mat Yasin HGM2013-ICG-2021 GENETIC VARIATIONS AMONG MALAY SUB-ETHNIC GROUPS IN PENINSULAR MALAYSIA - Xiao Li HGM2013-ICG-2022 SNP IDENTIFICATION OF MALAY SUB-ETHNIC GROUP IN PENINSULAR MALAYSIA IN CHROMOSOME 19 - Nik Norliza Nik Hassan

Prokaryotic Genetics HGM2013-ICG-1178 KLEBSIELLA PNEUMONIAE PEPTIDOGLYCAN-ASSOCIATED LIPOPROTEIN AND MUREIN LIPOPROTEIN CONTRIBUTE TO SERUM RESISTANCE, ANTI-PHAGOCYTOSIS AND VIRULENCE - Pei-Fang Hsieh HGM2013-ICG-1192 THE ACTINOBACTERIAL REGULON CONTROLLED BY THE GLUCOSAMINE OLIGOSACCHARIDE CSNR REPRESSOR : PRIMACY OF FUNCTION OVER STRUCTURE - Ryszard Brzezinski HGM2013-ICG-1275 MICROBIAL MEDIATED ARSENIC SPECIATION DEPENDS UPON GENE DISTRIBUTION: THE ROLE OF BACTERIA IN GROUND WATER ARSENIC CONTAMINATION - Nandana Das HGM2013-ICG-1830 CHARACTERIZATION OF CLASS 1 INTEGRONS AND GENE CASSETTES IN ESBL PRODUCING ISOLATES FROM CLINICAL SPECIMENS IN NORTH OF IRAN, RASHT - Adele Mirbagheri HGM2013-ICG-1843 GENE EXPRESSION PROFILING OF PROKARYOTIC SAMPLES USING LOW INPUT QUICK AMP WT KIT - Charmian Cher

Regulatory Aspects of Genetics and Genomics HGM2013-ICG-1184 DIFFERENTIAL EPIGENETIC REGULATION PREDISPOSES HUMANS TOWARDS ARSENIC INDUCED CARCINOGENETICITY - Somnath Paul HGM2013-ICG-1342 A GENOME-WIDE GENE-BASED MAPPING STUDY OF EXPRESSION QUANTITATIVE TRAIT LOCUS IN HUMANS - Hsin-Chou Yang HGM2013-ICG-1550 EXPRESSION PROFILING OF XKRY, KDM5D ISOFORMS AND THEIR X HOMOLOGUES IN AZOOSPERMIC PATIENTS - Diba Ahmadi Rastegar HGM2013-ICG-1583 MATRIX METALLOPROTEINASE -1 POLYMORPHISM AND RISK OF DIABETIC NEPHROPATHY - Srilatha G Reddy

Systems Biology/ Synthetic Biology Genetics HGM2013-ICG-1217 SYNTHETIC BIOLOGY : A PATENT LANDSCAPING ANALYSIS, TOWARDS A STRATEGIC VIEW OF TOMORROW INTELLECTUAL PROPERTY RIGHTS - Philippe Gorry HGM2013-ICG-1433 UNDERSTANDING GENETIC FUNCTIONS IN BURKHOLDERIA PSEUDOMALLEI THROUGH COEXPRESSION NETWORK - Wen Fong Ooi HGM2013-ICG-1440 STUDY OF RHIZOBIUM ESPARSETA WITH MOLECULAR GENETICALLY METHODS - Bakhtiyor Umarov HGM2013-ICG-1486 PATHWAY PROFILING OF OBESITY USING THE WEIGHTED INTERACTION SNP HUB (WISH) NETWORK METHOD - Haja N. Kadarmideen HGM2013-ICG-1665 EXPRESSION ENGINEERING OF BIOMIMETIC MATERIALS FOR INDUSTIAL APPLICATIONS - Shawn Hoon

All the information is correct as of 01 April 2013

90 Poster Presentation Schedule

HGM2013-ICG-1775 LEARNING NEW BIOLOGY FROM GWAS BY MEANS OF NETWORK ANALYSIS AND LINK PREDICTION - Gregorio Alanis-Lobato HGM2013-ICG-1889 COMPREHENSIVE TRANSCRIPTOME CHARACTERIZATION TO IMPROVE GENE ANNOTATION IN THE CYNOMOLGUS MACAQUE - Juntao Li

Vertebrate Genetics HGM2013-ICG-1510 GENETIC ANALYSIS OF THE FFRC STRAIN COMMON CARP (CYPRINUS CARPIO L.) AND ITS ORIGINAL PARENTS BY THE TARGET REGION AMPLIFIED POLYMORPHISM MARKERS - Zaijie Dong HGM2013-ICG-1873 LOW RATE OF INTERCHROMOSOMAL REARRANGEMENTS DURING OLD RADIATION OF GEKKOTAN LIZARDS (SQUAMATA: GEKKOTA) - Martina Pokorna HGM2013-ICG-1877 WHAT WAS THE ANCESTRAL SEX-DETERMINING MECHANISM IN AMNIOTE VERTEBRATES? - Lukas Kratochvil

All the information is correct as of 01 April 2013

91 Exhibition Floorplan

HGM 2013 and 21st International Congress of Genetics The Sands Expo and Convention Centre. Level 4; Exhibitions 14 - 18 April 2013

92 Exhibitor’s Listing

Exhibitor’s Name Booth NO#

Affymetrix, Inc. A28 Agilent Technologies C19 Becton, Dickinson & Company (BD) C25 BGI C17 Bio-Med Central (Springer Asia) T03 Bio-Rad Laboratories B28 Cambridge University Press A13 Cold Harbor Lab (Genome Research) T02 DNA Genotek Inc. C15

Fluidigm Corporation B16 Genotypic Technology Pvt Ltd C05 HUGO International B01 Illumina Singapore Pte Ltd B14 Life Technologies A14 Macrogen Inc. B02 Nature Publishing Group B13 New England BioLabs A19 Oracle Health Sciences A15 Pacifi c Biosciences Inc. C09 Partek Singapore Pte Ltd C07 PerkinElmer (Singapore) Pte Ltd A06 Promega Pte Ltd A10 Qiagen Singapore Pte Ltd B15 Research Instruments Pte Ltd A20 Recruitment Kiosk A09 Roche Diagnostics GmbH C01 Sequenom, Inc. C13 Taylor & Francis Asia Pacifi c T01 Thermo Fisher Scientifi c A16

93 Sponsors & Exhibitors Profi les

Congress Collaborator BGI BGI was founded in 1999 to support the development of science and technology, building strong research teams in genomics fi eld. With the integrative structure of research innovation, platform development and industrial application, BGI is dedicated to facilitate the applications in Healthcare, Agriculture, and Environment, to serve the people for a better life.

Building No.11 8/F Beishan Industrial Zone, Yantian District Shenzhen, China 518083 http://www.genomics.cn/en/index

Gold Sponsors Bio-Rad Laboratories Bio-Rad Laboratories continues to play a leading role in the advancement of scientifi c discovery by announcing the launch of a Digital Biology Centre to focus on the development of innovative new products based upon droplet digital PCR technology. This droplet partitioning technology offers researchers a new level of precision in quantifi cation of target molecules and has potential to deliver powerful new solutions for digital biology in both the life science and clinical diagnostic markets.

27 International Business Park, #03-02 iQuest@IBP, Singapore 60992 http://www.bio-rad.com

Fluidigm Corporation Fluidigm develops, manufactures and markets life-science systems based on integrated fl uidic circuits (IFCs). This technology furthers research by minimizing costs and enhancing sensitivity for applications such as single-cell gene expression profi ling, high-throughput SNP genotyping, and next-generation sequencing. Fluidigm products are used for research only.

7000 Shoreline Court, Suite #100, South San Francisco, CA 94080 http://www.fl uidigm.com

Roche Diagnostics GmbH Roche Applied Science is a leading producer of instruments, kits, and reagents for life science research, offering a comprehensive portfolio including next-generation sequencing, real-time PCR, nucleic acid purifi cation, and research-grade biochemicals. Decades of experience and cutting-edge technology combine to help drive new revelations in cell biology, human genomics, and disease research. Visit www.roche-applied-science.com for more information.

DAMB….6164, Nonnenwald 2, 82377 Penzberg / Germany www.roche-applied-science.com

94 Sponsors & Exhibitors Profi les

Silver Sponsor Agilent Technologies As the world’s premier measurement company, Agilent offers the broadest range of innovative measurement solutions in the industry. The company’s three businesses – Chemical Analysis, Life Sciences, and Electronic Measurement – provide customers with products and services that make a difference in the lives of people everywhere. For more information visit: www.agilent.com

1 Yishun Avenue 7 Singapore 768923 www.agilent.com

Bronze Sponsor Affymetrix, Inc. Improvements in medical research, routine clinical applications, and agricultural sustainability are critical to the future of our world. Affymetrix provides genomics, proteomics, and cell biology solutions to current barriers such as time to results, accuracy of data, and cost of implementation, enabling biology for a better world. Visit booth #A28. For more information visit: www.affymetrix.com

3420 Central Expressway Santa Clara, CA 95051 www.affymetrix.com

ORACLE Health Sciences Oracle is a leading strategic software solutions provider to the health sciences industry, helping pharmaceutical, biotechnology, medical device, and healthcare organizations become the most successful in the world by offering the most innovative products and services that deliver the most compelling customer and shareholder value. Oracle’s comprehensive industry solutions include clinical trial management and analysis, electronic data capture, adverse event reporting and pharmacovigilance, and healthcare interoperability. Oracle partners with health sciences industry leaders – including 20 of the top 20 life sciences companies and 14 of the top 14 Fortune Global 500 healthcare organizations – to prevent and cure disease, enhance quality of life, and accelerate insights for better health.

6 Temasek Boulevard, #18-01 Suntec Tower Four, Singapore 038986 http://www.oracle.com

95 Sponsors & Exhibitors Profi les

Session Sponsors

Becton, Dickinson & Company (BD) BD is a leading global medical technology company that develops, manufactures and sells medical devices, instrument systems and reagents. The company is dedicated to improving people’s health throughout the world. BD is focused on improving drug delivery, enhancing the quality and speed of diagnosing infectious diseases and cancers, and advancing research, discovery and production of new drugs and vaccines. For more information, please visit our website at www.bd.com.

30 Tuas Avenue 2, Singapore 639461 www.bd.com

BioMed Central Ltd BioMed Central is an STM (Science, Technology and Medicine) publisher of 244 open access, online, peer- reviewed journals. The portfolio of journals spans all areas of biology and medicine and includes specialist genomics titles, such as Genome Medicine and Genome Biology, alongside broad interest titles, such as BMC Medicine and BMC Biology. All original research articles published by BioMed Central are made freely and permanently accessible online immediately upon publication.

Floor 6, 236 Gray’s Inn Road, London, WC1X 8HB, United Kingdom www.biomedcentral.com

Genome Canada Genome Canada is a catalyst for developing and applying genomic sciences that create economic wealth and social benefi t for Canadians. We work in partnership to invest in and manage large-scale research and translate discoveries into commercial opportunities, new technologies, applications and solutions. We build bridges between government, academia and industry to forge a genomics-based public-private innovation enterprise focused on key life science sectors of the economy.

150, rue Metcalfe Street, Suite 2100 Ottawa, ON K2P 1P1 www.genomecanada.ca

Pacifi c Biosciences Our mission is to transform the way humankind acquires, processes and interprets data from living systems through the design, development and commercialization of innovative tools for biological research. We have developed a novel approach to studying the synthesis and regulation of DNA, RNA and protein. Combining recent advances in nanofabrication, biochemistry, molecular biology, surface chemistry and optics, we created a powerful technology platform called single molecule, real-time, or SMRT®, technology.

1380 Willow Road, Menlo Park, CA 94025 www.pacifi cbiosciences.com

96 Sponsors & Exhibitors Profi les

Qiagen QIAGEN is the leading global provider of sample and assay technologies. Sample technologies are used to isolate and process DNA, RNA, and proteins from biological samples such as blood or tissue. Assay technologies are used to make such isolated biomolecules, such as the DNA of a specifi c virus, visible for subsequent analysis. We have developed and market more than 500 sample and assay products as well as automated solutions for such consumables.

8 Commonwealth Lane #02-02, Singapore 149555 www.qiagen.com

The Jackson Laboratory We are an independent, nonprofit organization focusing on mammalian genetics research to advance human health. Our mission is to discover the genetic basis for preventing, treating and curing human disease, and to enable research and education for the global biomedical community. Along with our research we provide scientifi c resources, techniques, software and data to scientists around the world. We breed and manage colonies of mice to supply other research institutions and laboratories.

600 Main Street, Bar Harbor, Maine 04609 USA www.jax.org

97 Sponsors & Exhibitors Profi les

Exhibitors

Shaftesbury Road Cambridge, CB2 8BS, UK http://journals.cambridge.org

2 Beauer Brook Road, Ottawa Ontario, K2K1L1 Canaad www.dnagenotek.com

#2/13, Balaji Complex 80 Feet Road R.M.V Second Stage Bangalore, India http://www.genotypic.co.in

11 Biopolis Way #09-05 Helios Singapore 138667 www.illumina.com

10 BioPolis Road Singapore 138670 www.lifetech.com

1002 World Meridian Venture Ct. 60-24 Gasan-dong, Geumchun-gu Seoul, 153-781 Korea www.macrogen.com

4 Crinan Street UK, N19XW London www.nature.com

240 County Road Ipswich, MA 01938-2723 www.neb.com

11 Biopolis Way, #08-12 Helios Singapore 138667 www.partek.com

28 Ayer Rajah Crescent, #08-02 Singapore 139959 www.perkinelmer.com

98 Sponsors & Exhibitors Profi les

77 Science Park Drive #02-16 Singapore 118256 http://www.promega.com/

47 Ayer Rajah Crescent #03-12 Singapore 139947 www.ri.com.sg

Level 6 CBCNC 300 Henston Road Queensland, 4006 Australia www.sequenom.com

240 MacPherson Road #08-01 Pines Industrial Building- Singapore 348574 http://www.taylorandfrancis.com.sg

Kookmin 1st building. 7th Floor 1009-5 Daechi-dong Seoul, 135-851 Korea http://www.thermofi sher.com

Special Thanks

345 Park Avenue New York, USA, 10154 http://www.bms.com

1 Bungtown Road, Cold Spring Harbor, New York, USA, 11724 http://genome.cshlp.org/

99 Acknowledgements

Congress Collaborator:

Gold Sponsors:

Silver Sponsor:

Bronze Sponsors:

Lanyard Sponsor:

Offi cial Congress Bag Sponsor:

Session Sponsors:

Special Thanks: David Cox for his support of HUGO including the securing of the travel grant for HGM2013.

Supported by:

Genome Institute of Singapore

Media Partners:

100 The new edition Sponsors– updated and & Exhibitorsextended Profi les

ISCN 2013 ISCN An International System for An International System for Human Cytogenetic Nomenclature (2013) Human Cytogenetic Nomenclature (2013) Editors Lisa G. Shaff er Michael Schmid Jean McGowan-Jordan Editors Lisa G. Shaffer Jean McGowan-Jordan Michael Schmid

Published in collaboration with

ISCN 2013 This publication extends the now classic system of Main Headings An International System for human cytogenetic nomenclature prepared by an Human Cytogenetic Nomenclature (2013) • Historical Introduction expert committee and published in collaboration Recommendations of the International • Normal Chromosomes Standing Committee on Human Cytogenetic with ‘Cytogenetic and Genome Research’ since 1963. • Symbols and Abbreviated Terms Nomenclature Revised and finalized by the ISCN Committee and its Published in collaboration with • Karyotype Designation advisors at a meeting in Seattle, Wash., in April 2012, ‘Cytogenetic and Genome Research’ • Uncertainty in Chromosome or Editors: Shaffer, L.G. (Spokane, Wash.); the ISCN 2013 updates, revises and incorporates all Band Designation McGowan-Jordan, J. (Ottawa, Ont.); Schmid, M. previous human cytogenetic nomenclature recom- (Würzburg) • Order of Chromosome Abnormalities in mendations into one systematically organized pub- VI + 140 p., 11 fig., 4 tab., 2013 the Karyotype Plus fold-out: ‘The Normal Human Karyotype lication that supersedes all previous ISCN recommen- • Normal Variable Chromosome Features G- and R-bands’ dations. CHF 43.–* / EUR 30.50* / USD 43.00* (soft cover) • Numerical Chromosome Abnormalities Prices subject to change ISCN 2013 EUR price for Germany, USD price for USA only There are several new features in : • Structural Chromosome Rearrangements ISBN 978–3–318–02253–7 (soft cover) • an update of the microarray nomenclature, • Chromosome Breakage many more illustrative examples of uses of • Neoplasia nomenclature in all sections • Meiotic Chromosomes • some definitions including chromothripsis and • In situ Hybridization duplication • Microarrays • a new chapter for nomenclature that can be • Region-Specific Assays used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.

* 1 copy: CHF 43.– / EUR 30.50 / USD 43.00 each Dear Librarian 2 copies: CHF 41.– / EUR 29.50 / USD 41.00 each 3–4 copies: CHF 40.– / EUR 28.50 / USD 40.00 each I have reviewed this publication and 5–9 copies: CHF 38.– / EUR 27.– / USD 38.00 each would like to recommend it for our library. 10–19 copies: CHF 34.– / EUR 24.50 / USD 34.00 each Recommended by: 20+ copies: CHF 32.– / EUR 23.– / USD 32.00 each

Department:

Date:

Signature: The easiest way to order: www.karger.com/iscn2013

Karger – Medical and Scientific Publishers CH–4009 Basel, Switzerland Orders may be placed with any bookshop, [email protected] , f: +41 61 306 12 34 subscription agency, directly with the publisher www.karger.com or through a Karger distributor.

101 Exome Sequencing Promotion

For large scale projects of ≥ 48 samples

  
 
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Delivering quality data & analysis to accurately identify variants

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