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9Th Asia-Pacificconferenceon Humangenetics Finalannouncement

9Th Asia-Pacificconferenceon Humangenetics Finalannouncement

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“Advances in Genetics and Genomics – Opportunities for the Asia-Pacific Region”

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Further Information & Update

E-mail: [email protected] http://hksmg.org/conference

Venue Hong Kong Academy of Medicine 99 Wong Chuk Hang Road, Aberdeen, Hong Kong

Organizer: The Asia Pacific Society of Human Genetics Host: Hong Kong Society of Medical Genetics program at a glance

30 Nov 2010 (Tue)

13:00 - 18:30 Registration

14:30 - 16:30 JHF Workshop on Alliance of Patient Advocates

16:45 - 18:30 HKUCHM Workshop on Communication and Counselling Affymetrix Workshop 18:30 - 20:30 Welcome Reception

1 Dec 2010 (Wed)

08:00 - 08:30 Opening Ceremony

08:30 - 10:15 Plenary Session 1

10:45 - 12:30 Symposium 1: Human Genome Variation

Symposium 2: New Technology and Impact

Symposium 3: Epigenetics and Proteomics

Free Paper Session 1: Genetic Diseases and Complex Disorders

12:30 - 13:30 Industrial Lunch Symposium sponsored by Beijing Genomics Institute – Hong Kong Ltd

14:00 - 15:45 Plenary Session 2

16:15 - 18:00 Symposium 4: Genetics in Populations

Symposium 5: Complex Diseases

Symposium 6: Thalassemia

Free Paper Session 2: Advances in Genetics and Genomics

2 Dec 2010 (Thu)

08:00 - 09:45 Plenary Session 3

10:15 - 12:00 Symposium 7: Prenatal Diagnosis

Symposium 8: Cancer Genomics

Symposium 9: AASPP Symposium on Citrin Deficiency

Free Paper Session 3: Genetics in the Society

12:00 - 13:00 Industrial Lunch Symposium sponsored by Agilent Co. Ltd. 1 program at a glance

13:30 - 15:15 Plenary Session 4

15:45 - 17:30 Symposium 10: Assisted Reproductive Technology

Symposium 11: Diagnostics and Screening

Symposium 12: March of Dimes Symposium on Birth Defects in the Asia Pacific Region

17:30 - 19:00 Genzyme Workshop on Lysosomal Storage Disorders (LSD) BioRad Workshop 19:00 - 22:00 Conference Banquet

3 Dec 2010 (Fri)

08:00 - 09:45 Plenary Session 5

10:15 - 12:00 Symposium 13: Genetic Counseling

Symposium 14: Public Health Genomics

Symposium 15: Pharmacogenomics, Personalized Medicine and New Technology

Free Paper Session 4: Medical Genetics

12:00 - 13:00 Industrial Lunch Symposium sponsored by Illumina Co. Ltd

13:30 - 15:15 Plenary Session 6

15:45 - 17:30 Symposium 16: Ethical, Legal and Social Issues

Symposium 17: Treatment of Diseases

Symposium 18: Genetic Services

Free Paper Session 5: Medical Genetics

17:30 - 18:00 Closing Ceremony

2 th 30 Nov – 3 Dec 2010, Hong Kong 9 APCHG Message from the Chairman

On behalf of the organizing committee of the 9th APCHG, I welcome you to participate in this important event of the Asia-Pacific Region.

In recent years, significant advances in genetics and genomics have been made at the scientific front. With the development of new technology and understanding of human diseases, these advances have paved way for major impacts in healthcare. The application of knowledge gained at the laboratory bench and clinical settings have been successfully transferred to diagnostic, therapeutic and preventive care. This trend is not only found in specific regions of the world, where medical and scientific development is more advanced. Instead, it has become a pervasive phenomenon throughout the whole world. Genetic and Genomic Medicine has come of age. The Asia-Pacific Region has not been left behind in this tide. For the past couple of decades, countries and areas in this Region have taken on the challenge to develop human genetics and its application. A network of collaboration has also been formed among academic centers, professional societies and various types of organizations in this Region. Every two to three years, the Asia Pacific Society of Human Genetics organizes a conference for all stake-holders in this field to share knowledge and development opportunities for collaboration. This will be the ninth conference organized by this society.

Please participate and enjoy this conference.

Dr. Stephen T.S. Lam Chairman, Organizing Committee President Elect Asia Pacific Society of Human Genetics

3

th 9 APCHG 30 Nov – 3 Dec 2010, Hong Kong

Organizer

The Asia Pacific Society of Human Genetics (APSHG) is a non-profit organization, founded in 2006, comprising persons involved or interested in the study of human genetics in the Asia-Pacific region. Its main objectives are to promote research in basic and applied human and medical genetics and to facilitate contact between all persons who share these aims. The Society will encourage and integrate research and professional and public education in all areas of human genetics. It also aims to provide a forum for all the above activities, and to organize and participate in scientific meetings, congresses and symposia and to do all such other things as may increase or spread knowledge and standing of human and medical genetics.

Host

Hong Kong Society of Medical Genetics (HKSMG) was formed as a non-profit organization in 1986. The Society’s aims are to promote the interest and knowledge in medical genetics in Hong Kong and to organize scientific and social meetings to facilitate interchange of ideas in medical genetics. Its members are from different disciplines such as the universities, government units, Hospital Authority service units and other scientific professions. This Society had previously organized four major conferences in medical genetics. These include the 2nd Asian Pacific Regional Meeting of the International Society for Neonatal Screening 1995, the 1st to 3rd Hong Kong Medical Genetic Conferences in 1997, 1999 and 2005 respectively. In 2008, this society joined hand with the American Chinese Geneticist Association to organize an International Conference on Genetic and Genomic Medicine. Members are medical practitioners, scientists or technologists in the field of medical genetics. Dr. Ivan FM Lo is currently Chairman of HKSMG.

Supporting Societies / Organizations

HUGO (Human Genome Organization International) International Federation of Human Genetic Societies International Paediatric Association East Asia Federation of Human Genetics Japan Society for the Promotion of Science American Chinese Geneticist Association Chinese National Science Foundation The Genetics Society of China Human Genetic Society Chinese Society of Medical Genetics Beijing Genomics Institute Macau Paediatric Society Department of Health, HKSAR Hospital Authority, HKSAR Center for the Humanities and Medicine () The School of Biomedical Sciences (Chinese University of Hong Kong) Hong Kong Bioethics Association Hong Kong Society of Inborn Errors of Metabolism Retina Hong Kong Journal of Genetics and Genomics Beijing Xinde Chuangye Culture Co., Ltd

4 th 9 APCHG 30 Nov – 3 Dec 2010, Hong Kong

Purpose

To provide a platform for basic scientists, clinicians, public health physicians and all others performing cutting edge genetic and genomic research in the Asia Pacific Region to meet with one another. The goal is to increase the awareness of the role genetics and genomics play in our daily life among the general public and healthcare providers and to enhance collaboration between scientists and clinicians of the Asia Pacific rim.

Scope

The focus of the conference will be on the impact of genetic and genomic research on human biology and medicine. Different disciplines in human genetics and genomics will be covered including but not limited to medical genetics, molecular genetics, clinical genetics, epigenetics and epigenomics, reproductive genetics and prenatal diagnosis, population genetics, complex disorders, medical genomics, cancer genomics, mitochondrial genetic disorders, stem cells and tissue engineering, gene therapy, genetics of emerging diseases, public health genomics as well as ethics and legal issues that arise with the coming of the genomic era.

Executive Committee

Stephen Lam Carmencita Padilla Ivan FM Lo Edison Liu Yoichi Matsubara Jin-Sung Lee Chan Chok Wan Keiko Kobayashi An Xi Pei He Chan Wai Yee Lui Kin Man Shen Yan PC Shaw Huanming Yang Karen Huen Robert Peckham Tsang Kin Ping

5 th 9 APCHG 30 Nov – 3 Dec 2010, Hong Kong

International Advisory Committee

YT Chen Richard Cotton David Sillence Lap Chee Tsui Joerg Schmidtke Zhu Chen Thong Meow Keong Lai Po San Ivy Ng Sangkot Marzuki Herawati Sudoyo Takeyori Saheki Ishwar Verma Paul Hwu Wuh Liang Suthat Fucharoen Pornswan Wasant Ron Zimmern Srikant Sarangi Angus Clarke Brad Therrell Owen Rennert James Lupski Local Organizing Committee

Ivan FM Lo, M.D. (HKSMG, DH) Wing-Kwong Chan, (HKSMG, CUHK) Calvin CP Pang, D.Phil. (HKSMG, CUHK) Priscilla MK Poon, Ph.D. (HKSMG, PWH) Mary HY Tang, M.D. (HKSMG, QMH) Nelson LS Tang, M.D. (HKSMG, CUHK) Tony MF Tong, (HKSMG, DH) Hannah Xue, Ph.D. (HKUST) Brian HY Chung, M.D. (HKSMG, HKU) Larry W. Baum, Ph.D. (HKSMG, CUHK) Richard KW Choy, Ph.D. (HKSMG, CUHK) Shea-Ping Yip, Ph.D. (HKSMG, PolyU) Ronald CC Wang, M.D., Ph.D. (HKSMG, CUHK)

6 program program

30 Nov 2010 (Tue) Geography & Population Hong Kong lies on the southern shore of China. In total area, Hong Kong covers just under 13:00 - 18:30 Registration 1,100 sq km, consisting essentially of Hong Kong Island (78 sq km), Kowloon peninsula (12 JHF Workshop on W 1.1 Christina Hellmann (JHF) sq km), the New Territories and 235 outlying islands (980 sq km). With a population of about 14:30 - 16:30 7 million, Hong Kong is one of the most densely populated areas in the world. Nearly 98% of Alliance of Patient How to raise and take care of a child with Orphan Disease the populations are Chinese. The official languages of Hong Kong are Chinese and English. Advocates W 1.2 Kin-Ping Tsang is the most widely spoken Chinese dialect. Most vendors speak some English. W 1.3 Taiwan Rare Disease Foundation Chair: Stephen Lam, W 1.4 Stephen Ma Transportation Fernando Cheung W 1.5 Ysbrand Poortman Hong Kong International Airport ↔ City 16:30 - 16:45 Coffee Break Hong Kong is easily accessible and served by direct passenger flights from all major cities HKUCHM W 2.1 Srikant Sarangi & Kristina Bennert around the world. The Hong Kong International Airport at Chek Lap Kook is only 45 minutes' 16:45 - 18:30 distance from most major hotels and shopping areas. The Airport Express train can take Workshop on Warrants for Advice-giving in Genetic Counselling passengers to the central business district in 30 minutes. Communication and W 2.2 Olga Zayts & Stephanie Schnurr Counselling “Advice “You may know better than I do when it comes to medical Getting around in Hong Kong Fleets of taxis, buses, ferries and trams, complemented by the Mass Transit Railway (MTR) Giving in Genetic thing”: Client’s Elicitation of Advice in Prenatal Genetic subway and train systems, enable visitors to explore Hong Kong safely and easily. Counselling” Counselling in Hong Kong W 2.3 Tina-Marie Wessels Transportation to the conference venue “You to decide what is best for you” – Advice Giving Bus Routes (alight at Aberdeen Athletic Field & Wong Chuk Hang Sports Centre) 37, 42, 47, 70, 72, 73, 75, 76, 90, 92, 95, 96, 97, 99, 107, 170, 171. 590. 592, 671, 973. during Decision-making in Intercultural Antenatal Genetic Minibus Routes (alight at Aberdeen Athletic Field & Wong Chuk Hang Sports Centre) Counselling Sessions W 2.4 Angus Clarke Climate Discussion: Advice-giving in genetic counselling Hong Kong is in the sub-tropical region. The weather in November and December has Affymetrix W 3.1 Brynn Levy pleasant breezes, plenty of sunshine and comfortable temperatures. Many people regard these as the best months of the year. On average, temperature is 25-28oC (77-82.4oF), Workshop Expanding the Diagnostic Potential in Clinical rainfall is around 27-35 mm/day, and relative humidity is 68-69%. Cytogenetics using SNP Oligonucleotide Microarray Analysis (SOMA) Currency W 3.2 Robert Klein The currency of Hong Kong is the Hong Kong Dollar (HK$). This is pegged to the US$ at a Cancer Clinical Diagnostic Applications with Microarrays: rate of HK$7.7-7.8 to US$1. Virtual Karyotyping with SNP Arrays CME/CPD 18:30 - 20:30 Welcome Reception CME/CPD accreditation will be granted by various Colleges of the Hong Kong Academy of Medicine and the Medical Laboratory Technologist (MLT) Board.

7 18 program program

1 Dec 2010 (Wed) 15:45 - 17:30 Symposium 18: S 18.1 Joerg Schmidtke Genetic Services To Test or Not to Test: The Eurogentest Clinical Utility 08:00 - 08:30 Opening Ceremony York Chow Gene Cards 08:30 - 10:15 Plenary Session 1 PL 1.1 Richard Cotton Chair: Shi-Huang S 18.2 Pornswan Wasant Progress in Human Variome Project Lee Provision of Comprehensive Clinical Genetic Service in PL 1.2 Huan-Ming Yang Thailand – Twenty Three Year Experience Breakthrough in Sequencing Technology and its Impact S 18.3 Arnold Christianson on Medicine in the 21st Century Develop Genetic Services in Middle-low Income Nations PL 1.3 Wai-Yee Chan S 18.4 Ulf Kristofferson Epigenetic Regulation of Non – coding RNA in Health and How to Build Sustainable Structures for Clinical Genetic Diseases Services – Experiences from EUROGENTEST 10:15 - 10:45 Coffee Break Free Paper Session FP 5.1 10:45 - 12:30 Symposium 1: S 1.1 Ming Qi 5: Medical Genetics FP 5.2 Human Genome Human Variome Project: China Database FP 5.3 Variation S 1.2 Zilfalil Alwi FP 5.4 Malaysian Human Genome Variation Project: On the FP 5.5 Move 17:30 - 18:00 Closing Ceremony S 1.3 Wan-Ling Yang Data Analysis in the Era of Genomic Studies and Next Venue Generation Sequencing Hong Kong Academy of Medicine, Jockey Club Building, 99 Wong Chuk Hang Road, S 1.4 Larry Baum Aberdeen, Hong Kong Genome Wide Association Studies of Epilepsy Symposium 2: S 2.1 Hannah Hong Xue New Technology Inter-Alu next generation sequencing (IAN): a new and Impact method for genome-wide detection of hot-spot mutations S 2.2 Sumio Sugano Human Transcriptome Analysis Using Second Generation Sequencer S 2.3 Richard Choy Diagnosis of Chromosomal Abnormalities : The Application and Use of Microarray Technology S 2.4 Gary Lu Language On the way to detect High Risk Cytogenomic Markers in The official language of the conference is English. There will be no provision of simultaneous Plasma Cell Myeloma more accurately translation.

17 8 program program

10:45 - 12:30 Symposium 3: S 3.1 Chia-Lin Wei 13:30 - 15:15 Plenary Session 6 PL 6.1 Kwok-Yung Yuen Epigenetics and Dynamic of Genome Organizations and Epigenetic Novel Mechanism for Antiviral Treatment of Influenza Proteomics Networks during Pluripotent Cells Differentiation PL 6.2 Qi Zhou S 3.2 Yi-Jun Ruan Pluripotent Stem Cells and the Potential Application in Chromatin Interaction and Transcription Regulation Regenerative Medicine S 3.3 Suet-Yi Leung PL 6.3 Yoichi Matsubara New Insight into Genetic and Epigenetic Mechanism Towards Genomic Medicine: Challenges and Causing the Lynch Syndrome Opportunities S 3.4 Benjamin Yung 15:15 - 15:45 Coffee Break Understanding of Molecules and/ or Biomarkers in Cancer 15:45 - 17:30 Symposium 16: S 16.1 Zifalil Alwi Free Paper Session FP 1.1 Ethical, Legal and Ethical Issues in Medical Genetics in the Muslim World 1: Genetic Diseases FP 1.2 Social Issues S 16.2 Kaori Muto and Complex FP 1.3 Ethical, Legal and Social Issues on Genetic and Genomic Disorders FP 1.4 Research FP 1.5 S 16.3 Pang-Chu Shaw 12:30 - 13:30 Industrial Lunch Symposium Teaching Bioethics in a Science Curriculum - A Personal Beijing Genomics Institute – Hong Kong Ltd. Account S 16.4 Thu-Nhanh Nguyen 13:30 – 14:00 Poster Session Metabolic Disorder and Hereditary Diseases in Vietnamese Carmencita D. Padilla 14:00 - 15:45 Presidential Address Children (Ethical, Legal and Social Issues) Plenary Session 2: PL 2.1 Li Jin Symposium 17: S 17.1 Zhang Cheng PL 2.2 Lin He Treatment of Experimental and Clinical Research on DMD Therapy GWAS of Complex Disease in the Chinese Population Diseases with Bone Marrow Stem Cell Transplantation. (A DMD 15:45 – 16:15 Coffee Break boy with bone marrow transplantation and 6 years follow 16:15 - 18:00 Symposium 4: S 4.1 Kwang-Jen Hsiao up.) Genetics in Tetrahydrobiopterin Synthesis Deficient Hyperphenyl- S 17.2 Poh-San Lai Populations alaninemia in East Asian Genetic Treatments for Duchenne Muscular Dystrophy S 4.2 Hui-Jun Yuan S 17.3 Andy Chiu Realizing the Promise of the HGP - Identification of Genes The Art of Reprogramming Somatic Cells into Underlying Hereditary Hearing Loss among Chinese Embryonic-like Stem Cells and its Potential Application Population S 17.4 Thao Phuong Bui S 4.3 Nelson Tang Outcome of Female Hormone and Growth Hormone Genome-wide Genotypes Provide New Insights into Treatment in Turner Syndrome Population Genetics and Disease Susceptibility S 4.4 Lee Schulman

9 16 program program

10:15 - 12:00 Symposium 14: S 14.1 Kaori Muto 16:15 - 18:00 Symposium 5 : S 5.1 Juliana Chan Public Health Regulatory Policy Options towards Direct-to-consumer Complex Diseases Diabetes and Co-Morbidities - Using Genomics to Unravel Genomics Genetic Testing in Several Countries Multicausality S 14.2 Kin-Ping Tsang S 5.2 Maria Merce Garcia-Barcelo Chair: Chao-Ming Medical Genetics and Patients’ Engagement Genetics of Congenital Anomalies Lin S 14.3 Lock-Hock Ngu S 5.3 Pak Sham Inborn Errors of Metabolism in Malaysia: Challenges and From GWAS to Disease Risk Prediction Opportunities S 5.4 Chris Lau S 14.4 Irma Nippert The Contrasting Roles of the Sex Chromosomes in Gender Health Needs Assessment as a Pre-requisite for Disparity in HBV-associated Hepatocellular Carcinoma Evidence-based Service Development in Developing Symposium 6: S 6.1 Suthat Fucharoen Countries Thalassemia Thalassemia in Asia: An Overview Symposium 15: S 15.1 Ching-Wan Lam S 6.2 Vivian Chan Pharmacogenomics, Genetic Testing and Personalized Medicine Chair: Hai-Yang Prevention and Control of Thalassemia Personalized S 15.2 Vivian Lee Law S 6.3 Victor Boulyyankov Medicine and New Personalized Medicine in Anti-platelet Therapy: What is Thalassemia and other Haemoglobinopathies: Technology the Clinical Impact? Emphasizing WHO Approaches to their Prevention and S 15.3 Sang-Seop Lee Control Genetic and Epigenetic Variation Affecting Cytochrome S 6.4 Philippe Leboulch P450 Expression Free Paper Session FP 2.1 S 15.4 Shea-Ping Yip 2: Advances in FP 2.2 Free Paper Session FP 4.1 Genetics and FP 2.3 4: Medical Genetics FP 4.2 Genomics FP 2.4 FP 4.3 FP 2.5 FP 4.4 FP 4.5 2 Dec 2010 (Thu) 12:00 - 13:00 Industrial Lunch Symposium Illumina Co. Ltd 08:00 - 09:45 Plenary Session 3 PL 3.1 Dennis Lo Noninvasive Fetal Genetics Analysis from Maternal 13:00 - 13:30 Poster Sessions Plasma PL 3.2 Edison Liu Cancer Genome: What Can Be Learned PL 3.3 Takeyori Saheki Treatment for Citrin Deficiency Based on the Analysis of the Model Mice 09:45 – 10:15 Coffee Break 15 10 program program

10:15 - 12:00 Symposium 7: S 7.1 IC Verma 17:30 - 19:00 Genzyme Workshop W 4.1 David Sillence Prenatal Diagnosis Prenatal Diagnosis - Current Status and Future Challenge on Lysosomal W 4.2 Paul Hwu in India Storage Disorders Changing the natural history of a disease: Pompe Disease Chair: Keong Wong, S 7.2 Tze-Kin Lau (LSD) Model and Newborn Screening Mary Tang Screening for Chromosomal Anomalies by First Trimester W 4.3 Yung Chyung Biochemical and Ultrasound Markers Chair: Karen Huen Early Initiation of Enzyme Replacement Therapy in S 7.3 Chin-Peng Lee Mucopolysaccharidosis Type I and II Prenatal Diagnosis and Treatment of Homozygous BioRad Workshop W.5.1 Alpha-Thalassemia in Hong Kong: Development and Challenges 3 Dec 2010 (Fri) S 7.4 Yi-Bin Guo The Prenatal Gene Diagnosis of 7 Kinds of Hereditary 08:00 - 09:45 Plenary Session 5 PL 5.1 Srikant Sarangi Bone Diseases Inside the Blackbox of Genetic Counseling Symposium 8: S 8.1 Judy WC Ho Communication Cancer Genomics Colorectal Cancer Screening – the Role of a Regional PL 5.2 Hilary Burton Registry Genetics and Mainstream Medicine: Service development Chair: Lee S 8.2 Ava Kwong and integration Schulman, Samuel Hereditary Breast and Ovarian Cancer: The Asia PL 5.3 Yuan-Tsong Chen 09:45 - 10:15 Kwok Experience Coffee Break S 8.3 Eva Cutiongco-de la Paz 10:15 - 12:00 Symposium 13: S 13.1 Meow-Keong Thong Genetic Polymorphisms in CYP1A1, GSTM1, GSTP1, Genetic Counseling Genetic Counseling in a Multi- ethnic Asian Population: GSTT1, NAT1 and NAT2 and Oral Cavity Cancer Risk Pitfalls and Challenges among Filipinos S 13.2 Arnold Christianson S 8.4 Kit-Fai Wong Medical Genetic Counseling in PHC – A South Africa The Promise and Peril of Blood Cancer Cytogenetics Experience S 13.3 Wei Li Online Genetic Counselling for Albinism in China

11 14 program program

15:45 - 17:30 Symposium 10: S 10.1 William Yeung 10:15 - 12:00 Symposium 9: S 9.1 Keiko Kobayashi Assisted Preimplantation Genetic Diagnosis – an overview AASPP Symposium SLC25A13 Mutations/ Variations in Citrin Deficiency: Reproductive S 10.2 Yan-Wen Xu on Citrin Deficiency Frequency and Distribution Technology Preimplantation Genetic Diagnosis in China S 9.2 Okano Yoshiyuki S 10.3 Lee Schulman Chair: Pik-To A Dynamic Change of Clinical Manifestation by Age in Chair: Clement Prenatal Diagnosis in Pregnancies evaluated by Cheung Citrin Deficiency Chan Preimplantation Genetic Diagnosis and Screening S 9.3 Yuan-Zong Song S 10.4 Heston Kwong Molecular, Cellular, Scientigraphic and Clinical Analysis Regulatory and Policy Issues in Assisted Reproductive of a Citrin -deficient Cohort: Experience in a Chinese Technology Pediatric Centre Symposium 11: S 11.1 Sung-Lee Jin S 9.4 Masahide Yazaki Diagnostics and Molecular Investigation of Cornelia de Lange Syndrome Therapeutic Approaches for Patients with Adult-onset Type

Screening S 11.2 Xue-Fan Gu II Citrullinemia (CTLN2) Current Situation of Newborn Screening in China S 9.5 Paul Hwu Chair: Kin-Man Lui S 11.3 Jian-Hui Jiang Newborn Screening for Citrin Deficiency Neonatal Screening and High Risk Screening for Inherited Free Paper Session FP 3.1 Inborn Errors of Metabolism in Guangzhou 3: Genetics in the FP 3.2 S 11.4 Yan-Ling Yang Society FP 3.3 The Diagnosis and Treatment of Chinese Patients with FP 3.4 Organic Acidemias FP 3.5 Symposium 12: S 12.1 Christopher Howson 12:00 - 13:00 Industrial Lunch Symposium March of Dimes S 12.2 Stephen Lam Agilent Co. Ltd. Symposium on Birth S 12.3 TBC (WHO) 13:00 - 13:30 Poster Sessions Defects in the Asia S 12.4 Ishwar Verma 13:30 - 15:15 Plenary Session 4 PL 4.1 Angus Clarke Pacific Region S 12.5 Meow-Kwong Thong Developments in Understanding Rett Syndrome over 20 S 12.6 Carmencita Padilla Years Chair: Stephen Lam/ S 12.7 Pornswan Wasant PL 4.2 Ole Doering Christopher Howson Ethics of Human Genetics in Society: the Challenge of Interaction and Ethical Governance PL 4.3 Brad Therell The World of Newborn Screening 15:15 - 15:45 Coffee Break

13 12 program program

15:45 - 17:30 Symposium 10: S 10.1 William Yeung 10:15 - 12:00 Symposium 9: S 9.1 Keiko Kobayashi Assisted Preimplantation Genetic Diagnosis – an overview AASPP Symposium SLC25A13 Mutations/ Variations in Citrin Deficiency: Reproductive S 10.2 Yan-Wen Xu on Citrin Deficiency Frequency and Distribution Technology Preimplantation Genetic Diagnosis in China S 9.2 Okano Yoshiyuki S 10.3 Lee Schulman Chair: Pik-To A Dynamic Change of Clinical Manifestation by Age in Chair: Clement Prenatal Diagnosis in Pregnancies evaluated by Cheung Citrin Deficiency Chan Preimplantation Genetic Diagnosis and Screening S 9.3 Yuan-Zong Song S 10.4 Heston Kwong Molecular, Cellular, Scientigraphic and Clinical Analysis Regulatory and Policy Issues in Assisted Reproductive of a Citrin -deficient Cohort: Experience in a Chinese Technology Pediatric Centre Symposium 11: S 11.1 Sung-Lee Jin S 9.4 Masahide Yazaki Diagnostics and Molecular Investigation of Cornelia de Lange Syndrome Therapeutic Approaches for Patients with Adult-onset Type

Screening S 11.2 Xue-Fan Gu II Citrullinemia (CTLN2) Current Situation of Newborn Screening in China S 9.5 Paul Hwu Chair: Kin-Man Lui S 11.3 Jian-Hui Jiang Newborn Screening for Citrin Deficiency Neonatal Screening and High Risk Screening for Inherited Free Paper Session FP 3.1 Inborn Errors of Metabolism in Guangzhou 3: Genetics in the FP 3.2 S 11.4 Yan-Ling Yang Society FP 3.3 The Diagnosis and Treatment of Chinese Patients with FP 3.4 Organic Acidemias FP 3.5 Symposium 12: S 12.1 Christopher Howson 12:00 - 13:00 Industrial Lunch Symposium March of Dimes S 12.2 Stephen Lam Agilent Co. Ltd. Symposium on Birth S 12.3 TBC (WHO) 13:00 - 13:30 Poster Sessions Defects in the Asia S 12.4 Ishwar Verma 13:30 - 15:15 Plenary Session 4 PL 4.1 Angus Clarke Pacific Region S 12.5 Meow-Kwong Thong Developments in Understanding Rett Syndrome over 20 S 12.6 Carmencita Padilla Years Chair: Stephen Lam/ S 12.7 Pornswan Wasant PL 4.2 Ole Doering Christopher Howson Ethics of Human Genetics in Society: the Challenge of Interaction and Ethical Governance PL 4.3 Brad Therell The World of Newborn Screening 15:15 - 15:45 Coffee Break

13 12 program program

10:15 - 12:00 Symposium 7: S 7.1 IC Verma 17:30 - 19:00 Genzyme Workshop W 4.1 David Sillence Prenatal Diagnosis Prenatal Diagnosis - Current Status and Future Challenge on Lysosomal W 4.2 Paul Hwu in India Storage Disorders Changing the natural history of a disease: Pompe Disease Chair: Keong Wong, S 7.2 Tze-Kin Lau (LSD) Model and Newborn Screening Mary Tang Screening for Chromosomal Anomalies by First Trimester W 4.3 Yung Chyung Biochemical and Ultrasound Markers Chair: Karen Huen Early Initiation of Enzyme Replacement Therapy in S 7.3 Chin-Peng Lee Mucopolysaccharidosis Type I and II Prenatal Diagnosis and Treatment of Homozygous BioRad Workshop W.5.1 Alpha-Thalassemia in Hong Kong: Development and Challenges 3 Dec 2010 (Fri) S 7.4 Yi-Bin Guo The Prenatal Gene Diagnosis of 7 Kinds of Hereditary 08:00 - 09:45 Plenary Session 5 PL 5.1 Srikant Sarangi Bone Diseases Inside the Blackbox of Genetic Counseling Symposium 8: S 8.1 Judy WC Ho Communication Cancer Genomics Colorectal Cancer Screening – the Role of a Regional PL 5.2 Hilary Burton Registry Genetics and Mainstream Medicine: Service development Chair: Lee S 8.2 Ava Kwong and integration Schulman, Samuel Hereditary Breast and Ovarian Cancer: The Asia PL 5.3 Yuan-Tsong Chen 09:45 - 10:15 Kwok Experience Coffee Break S 8.3 Eva Cutiongco-de la Paz 10:15 - 12:00 Symposium 13: S 13.1 Meow-Keong Thong Genetic Polymorphisms in CYP1A1, GSTM1, GSTP1, Genetic Counseling Genetic Counseling in a Multi- ethnic Asian Population: GSTT1, NAT1 and NAT2 and Oral Cavity Cancer Risk Pitfalls and Challenges among Filipinos S 13.2 Arnold Christianson S 8.4 Kit-Fai Wong Medical Genetic Counseling in PHC – A South Africa The Promise and Peril of Blood Cancer Cytogenetics Experience S 13.3 Wei Li Online Genetic Counselling for Albinism in China

11 14 program program

10:15 - 12:00 Symposium 14: S 14.1 Kaori Muto 16:15 - 18:00 Symposium 5 : S 5.1 Juliana Chan Public Health Regulatory Policy Options towards Direct-to-consumer Complex Diseases Diabetes and Co-Morbidities - Using Genomics to Unravel Genomics Genetic Testing in Several Countries Multicausality S 14.2 Kin-Ping Tsang S 5.2 Maria Merce Garcia-Barcelo Chair: Chao-Ming Medical Genetics and Patients’ Engagement Genetics of Congenital Anomalies Lin S 14.3 Lock-Hock Ngu S 5.3 Pak Sham Inborn Errors of Metabolism in Malaysia: Challenges and From GWAS to Disease Risk Prediction Opportunities S 5.4 Chris Lau S 14.4 Irma Nippert The Contrasting Roles of the Sex Chromosomes in Gender Health Needs Assessment as a Pre-requisite for Disparity in HBV-associated Hepatocellular Carcinoma Evidence-based Service Development in Developing Symposium 6: S 6.1 Suthat Fucharoen Countries Thalassemia Thalassemia in Asia: An Overview Symposium 15: S 15.1 Ching-Wan Lam S 6.2 Vivian Chan Pharmacogenomics, Genetic Testing and Personalized Medicine Chair: Hai-Yang Prevention and Control of Thalassemia Personalized S 15.2 Vivian Lee Law S 6.3 Victor Boulyyankov Medicine and New Personalized Medicine in Anti-platelet Therapy: What is Thalassemia and other Haemoglobinopathies: Technology the Clinical Impact? Emphasizing WHO Approaches to their Prevention and S 15.3 Sang-Seop Lee Control Genetic and Epigenetic Variation Affecting Cytochrome S 6.4 Philippe Leboulch P450 Expression Free Paper Session FP 2.1 S 15.4 Shea-Ping Yip 2: Advances in FP 2.2 Free Paper Session FP 4.1 Genetics and FP 2.3 4: Medical Genetics FP 4.2 Genomics FP 2.4 FP 4.3 FP 2.5 FP 4.4 FP 4.5 2 Dec 2010 (Thu) 12:00 - 13:00 Industrial Lunch Symposium Illumina Co. Ltd 08:00 - 09:45 Plenary Session 3 PL 3.1 Dennis Lo Noninvasive Fetal Genetics Analysis from Maternal 13:00 - 13:30 Poster Sessions Plasma PL 3.2 Edison Liu Cancer Genome: What Can Be Learned PL 3.3 Takeyori Saheki Treatment for Citrin Deficiency Based on the Analysis of the Model Mice 09:45 – 10:15 Coffee Break 15 10 program program

10:45 - 12:30 Symposium 3: S 3.1 Chia-Lin Wei 13:30 - 15:15 Plenary Session 6 PL 6.1 Kwok-Yung Yuen Epigenetics and Dynamic of Genome Organizations and Epigenetic Novel Mechanism for Antiviral Treatment of Influenza Proteomics Networks during Pluripotent Cells Differentiation PL 6.2 Qi Zhou S 3.2 Yi-Jun Ruan Pluripotent Stem Cells and the Potential Application in Chromatin Interaction and Transcription Regulation Regenerative Medicine S 3.3 Suet-Yi Leung PL 6.3 Yoichi Matsubara New Insight into Genetic and Epigenetic Mechanism Towards Genomic Medicine: Challenges and Causing the Lynch Syndrome Opportunities S 3.4 Benjamin Yung 15:15 - 15:45 Coffee Break Understanding of Molecules and/ or Biomarkers in Cancer 15:45 - 17:30 Symposium 16: S 16.1 Zifalil Alwi Free Paper Session FP 1.1 Ethical, Legal and Ethical Issues in Medical Genetics in the Muslim World 1: Genetic Diseases FP 1.2 Social Issues S 16.2 Kaori Muto and Complex FP 1.3 Ethical, Legal and Social Issues on Genetic and Genomic Disorders FP 1.4 Research FP 1.5 S 16.3 Pang-Chu Shaw 12:30 - 13:30 Industrial Lunch Symposium Teaching Bioethics in a Science Curriculum - A Personal Beijing Genomics Institute – Hong Kong Ltd. Account S 16.4 Thu-Nhanh Nguyen 13:30 – 14:00 Poster Session Metabolic Disorder and Hereditary Diseases in Vietnamese Carmencita D. Padilla 14:00 - 15:45 Presidential Address Children (Ethical, Legal and Social Issues) Plenary Session 2: PL 2.1 Li Jin Symposium 17: S 17.1 Zhang Cheng PL 2.2 Lin He Treatment of Experimental and Clinical Research on DMD Therapy GWAS of Complex Disease in the Chinese Population Diseases with Bone Marrow Stem Cell Transplantation. (A DMD 15:45 – 16:15 Coffee Break boy with bone marrow transplantation and 6 years follow 16:15 - 18:00 Symposium 4: S 4.1 Kwang-Jen Hsiao up.) Genetics in Tetrahydrobiopterin Synthesis Deficient Hyperphenyl- S 17.2 Poh-San Lai Populations alaninemia in East Asian Genetic Treatments for Duchenne Muscular Dystrophy S 4.2 Hui-Jun Yuan S 17.3 Andy Chiu Realizing the Promise of the HGP - Identification of Genes The Art of Reprogramming Somatic Cells into Underlying Hereditary Hearing Loss among Chinese Embryonic-like Stem Cells and its Potential Application Population S 17.4 Thao Phuong Bui S 4.3 Nelson Tang Outcome of Female Hormone and Growth Hormone Genome-wide Genotypes Provide New Insights into Treatment in Turner Syndrome Population Genetics and Disease Susceptibility S 4.4 Lee Schulman

9 16 program program

1 Dec 2010 (Wed) 15:45 - 17:30 Symposium 18: S 18.1 Joerg Schmidtke Genetic Services To Test or Not to Test: The Eurogentest Clinical Utility 08:00 - 08:30 Opening Ceremony York Chow Gene Cards 08:30 - 10:15 Plenary Session 1 PL 1.1 Richard Cotton Chair: Shi-Huang S 18.2 Pornswan Wasant Progress in Human Variome Project Lee Provision of Comprehensive Clinical Genetic Service in PL 1.2 Huan-Ming Yang Thailand – Twenty Three Year Experience Breakthrough in Sequencing Technology and its Impact S 18.3 Arnold Christianson on Medicine in the 21st Century Develop Genetic Services in Middle-low Income Nations PL 1.3 Wai-Yee Chan S 18.4 Ulf Kristofferson Epigenetic Regulation of Non – coding RNA in Health and How to Build Sustainable Structures for Clinical Genetic Diseases Services – Experiences from EUROGENTEST 10:15 - 10:45 Coffee Break Free Paper Session FP 5.1 10:45 - 12:30 Symposium 1: S 1.1 Ming Qi 5: Medical Genetics FP 5.2 Human Genome Human Variome Project: China Database FP 5.3 Variation S 1.2 Zilfalil Alwi FP 5.4 Malaysian Human Genome Variation Project: On the FP 5.5 Move 17:30 - 18:00 Closing Ceremony S 1.3 Wan-Ling Yang Data Analysis in the Era of Genomic Studies and Next Venue Generation Sequencing Hong Kong Academy of Medicine, Jockey Club Building, 99 Wong Chuk Hang Road, S 1.4 Larry Baum Aberdeen, Hong Kong Genome Wide Association Studies of Epilepsy Symposium 2: S 2.1 Hannah Hong Xue New Technology Inter-Alu next generation sequencing (IAN): a new and Impact method for genome-wide detection of hot-spot mutations S 2.2 Sumio Sugano Human Transcriptome Analysis Using Second Generation Sequencer S 2.3 Richard Choy Diagnosis of Chromosomal Abnormalities : The Application and Use of Microarray Technology S 2.4 Gary Lu Language On the way to detect High Risk Cytogenomic Markers in The official language of the conference is English. There will be no provision of simultaneous Plasma Cell Myeloma more accurately translation.

17 8 th th 9 APCHG 30 Nov – 3 Dec 2010, Hong Kong 9 APCHG 30 Nov – 3 Dec 2010, Hong Kong

30 Nov 2010 (Tue) Geography & Population Hong Kong lies on the southern shore of China. In total area, Hong Kong covers just under 13:00 - 18:30 Registration 1,100 sq km, consisting essentially of Hong Kong Island (78 sq km), Kowloon peninsula (12 JHF Workshop on W 1.1 Christina Hellmann (JHF) sq km), the New Territories and 235 outlying islands (980 sq km). With a population of about 14:30 - 16:30 7 million, Hong Kong is one of the most densely populated areas in the world. Nearly 98% of Alliance of Patient How to raise and take care of a child with Orphan Disease the populations are Chinese. The official languages of Hong Kong are Chinese and English. Advocates W 1.2 Kin-Ping Tsang Cantonese is the most widely spoken Chinese dialect. Most vendors speak some English. W 1.3 Taiwan Rare Disease Foundation Chair: Stephen Lam, W 1.4 Stephen Ma Transportation Fernando Cheung W 1.5 Ysbrand Poortman Hong Kong International Airport ↔ City 16:30 - 16:45 Coffee Break Hong Kong is easily accessible and served by direct passenger flights from all major cities HKUCHM W 2.1 Srikant Sarangi & Kristina Bennert around the world. The Hong Kong International Airport at Chek Lap Kook is only 45 minutes' 16:45 - 18:30 distance from most major hotels and shopping areas. The Airport Express train can take Workshop on Warrants for Advice-giving in Genetic Counselling passengers to the central business district in 30 minutes. Communication and W 2.2 Olga Zayts & Stephanie Schnurr Counselling “Advice “You may know better than I do when it comes to medical Getting around in Hong Kong Fleets of taxis, buses, ferries and trams, complemented by the Mass Transit Railway (MTR) Giving in Genetic thing”: Client’s Elicitation of Advice in Prenatal Genetic subway and train systems, enable visitors to explore Hong Kong safely and easily. Counselling” Counselling in Hong Kong W 2.3 Tina-Marie Wessels Transportation to the conference venue “You to decide what is best for you” – Advice Giving Bus Routes (alight at Aberdeen Athletic Field & Wong Chuk Hang Sports Centre) 37, 42, 47, 70, 72, 73, 75, 76, 90, 92, 95, 96, 97, 99, 107, 170, 171. 590. 592, 671, 973. during Decision-making in Intercultural Antenatal Genetic Minibus Routes (alight at Aberdeen Athletic Field & Wong Chuk Hang Sports Centre) Counselling Sessions W 2.4 Angus Clarke Climate Discussion: Advice-giving in genetic counselling Hong Kong is in the sub-tropical region. The weather in November and December has Affymetrix W 3.1 Brynn Levy pleasant breezes, plenty of sunshine and comfortable temperatures. Many people regard these as the best months of the year. On average, temperature is 25-28oC (77-82.4oF), Workshop Expanding the Diagnostic Potential in Clinical rainfall is around 27-35 mm/day, and relative humidity is 68-69%. Cytogenetics using SNP Oligonucleotide Microarray Analysis (SOMA) Currency W 3.2 Robert Klein The currency of Hong Kong is the Hong Kong Dollar (HK$). This is pegged to the US$ at a Cancer Clinical Diagnostic Applications with Microarrays: rate of HK$7.7-7.8 to US$1. Virtual Karyotyping with SNP Arrays CME/CPD 18:30 - 20:30 Welcome Reception CME/CPD accreditation will be granted by various Colleges of the Hong Kong Academy of Medicine and the Medical Laboratory Technologist (MLT) Board.

7 18 th 9 APCHG 30 Nov – 3 Dec 2010, Hong Kong

Principal Sponsors

19 th 9 APCHG 30 Nov – 3 Dec 2010, Hong Kong

Supporting Sponsors

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