DEPARTMENT OF HUMAN GENETICS ANNUAL REPORT 2015

Chair: Eric Shoubridge, PhD FRSC

Chairman’s Overview

The Department of Human Genetics (established 1993) is both a basic science and a clinical department in the Faculty of Medicine at McGill. It has the dual challenge of promoting excellence in research and teaching in the basic science of human genetics and also a similar challenge for excellence in professional training and patient care. Our faculty are scattered throughout the McGill campus in the MUHC­RI, LDI, MNI, Douglas, Bellini Life Sciences Complex, and the Genome Quebec Innovation Centre. There are also Departments of Medical Genetics at both the McGill University Health Centre and the Jewish General Hospital. Genetics is thus pervasive both physically and intellectually throughout the University – at once strength that permits innovation and collaboration across disciplines, but one that poses the challenges of departmental coherence. We are fortunate in having an excellent administrative staff, a vibrant webpage, and an excellent weekly newsletter. I hope that the roll out of AEC12 will only strengthen ties between some of the major research groups in the genetics community. Many of our researchers, and clinicians responsible for the training of medical residents and genetic counselors, moved to the Glen site, resulting in the consolidation of clinically related activities.

The Department is responsible for the training of graduate students, genetic counselors (MSc program), medical students, and medical residents in the various clinical areas of medical genetics. Our graduate student program remains extremely strong and we have had an exceptionally large influx of new students this year, a reflection on the overall academic excellence of members of the department and their success in competing for external funding in tough times. Our graduate students have a particularly robust student society that organizes major academic as well as social events. This contributes enormously to the vibrancy of the department, and is really crucial to bring together students scattered across the city. The Genetic Counseling program continues to be extremely popular and successful. Jennifer Fitzpatrick, who leads this program, also successfully undertook to ensure that genetics was a large part of the new curriculum in the medical school.

Many senior members hold leadership positions at the University, teaching hospitals, and the research institutes. Lark Lathrop is the Head of the McGill­Genome Quebec Innovation Centre, Philippe Gros heads the Complex Trait Group in the Bellini Life Sciences Complex, Bartha Knoppers heads the Centre of Genomics and Policy at the McGill University­Genome Quebec Innovation Centre, research in this Centre is directed by Yann Joly, Roderick McInnes directs the Lady Davis Institute, William Foulkes heads the McGill Cancer Genetics Program, Gustavo Turecki directs research at the Douglas, and Rene St­Arnaud heads research at the Shriner’s Hospital. This is really an extraordinary concentration of talent for a single department. We have been able to recruit several exceptionally talented new investigators in the last few years, most recently Hamed Najafabadi, and that is adding incredible breadth and depth to our graduate program and the course offerings. This growth and renewal is essential if we are to remain at the forefront of new genetic technologies and retain the ability to attract the best graduate students. All junior faculty members are now mentored.

There is a major need for the recruitment of clinically trained medical geneticists. We have recently carried out a search and are in the process of making letters of offer to two young investigators. A challenge for the Department remains the recruitment of a permanent head of Medical Genetics at the MUHC and the JGH. Dr. Guy Rouleau is the interim head of Medical Genetics at the MUHC and is re­ building this department to make it functional and attractive for a mid­career clinician­scientist to take over as a permanent head. This would serve to catalyze the creation of a unified vision for genetic education, research and clinical services across the McGill system. Research and Publications Highlight achievements which have the most significant impact.

https://www.mcgill.ca/humangenetics/files/humangenetics/publications_grants_2015.pdf

Teaching and learning (graduate)

Danielle Malo Megan Eva, a PhD student recipient of an FRQS studentships received FCRF (France Canada Research Fund)­L’Oréal 2015

Ioannis Ragoussis x Laboratory Course in next generation sequencing: Successful pilot and approved as official course HGEN698 for 2016

Brent Richards John Morris, PhD student: x RMGA Gérard­Bouchard Fellowship (2015­2016): $17,850 x CIHR Human Genetics Best Poster: Vancouver 2015: $1,000 x Queen Elizabeth II Scholar, a scholarship to pay for a visiting residency at the Wellcome Trust Sanger Institute of Cambridge University in the UK: $6,000

Despina Manousaki, MSc student: x Canadian Pediatric Endocrine Group Fellowship: $60,000 x Réseau de médicine génétique appliquée: $25,000

Lauren Mokry, MSc student: x CIHR Frederick Banting and Charles Best Canada Graduate x Scholarship (Master’s): $17,500 x PLoS Medicine publication (Mokry et al. 2015). x This study received lay press coverage from ABC, CTV, CBC and Global News, the Guardian, the Telegraph, Yahoo and other news sources. Importantly for knowledge translation, this study received news pieces from the CMAJ and MedScape, which are targeted to the general medical community and Neurology Today, which is targeted to neurologists.

Vince Forgetta, research associate: x Nature publication (Zheng et al. 2015)

Involvement in the community

Daniela Buhas x Chair of the Metabolic Committee in the Canadian College of Medical Geneticists (CCMG).

Centre for Genomics and Policy (Bartha Knoppers/Yann Joly/Ma’n Zawati x The Center of Genomics and Policy and Wyng Trust Visiting Scholar Program (2015­2018) Prof. Bartha Maria Knoppers, PhD Thanks to a collaborative agreement with the Centre for Medical Ethics and Law (CMEL) and the WYNG Foundation, we are pleased to introduce the CGP / Wyng Trust Visiting Scholars Program. The research of our Visiting Scholars will be dedicated to the emerging topics of (i) international data sharing and (ii) cancer research and screening/biobanking. This emphasis will cement existing connections with academics working in the Law and Technology Centre on issues of privacy and data sharing and the ‘Children of 1997’ project supported by the WYNG Foundation. The first international conference uniting CGP with its Cambridge UK (PHG) and Hong Kong (CMEL) partners will take place in April 2016.

x P3G International Paediatric Platform “Think Tank”, May 11­12 In the spring of 2015, a Think Tank focusing on“Re­contact in Biomedical Research: Implications of Attaining Majority” was organized by the P3G International Paediatric Platform in Montreal. The Think Tank brought together fourteen Paediatric experts to discuss the issue of re­contacting children in many different settings, including biobanks, longitudinal studies, clinical research, and newborn screening programs. All attendees contributed to a manuscript entitled “Attaining Majority in Biomedical Research: Re­contact for Consent?” consolidating the discussions brought forth during the Think Tank.

x Summer Seminar Series, June 12­September 15 Each year, the CGP invites its members to present to the team and share their research findings (e.g. new publications, ongoing research results, etc.). It is a great opportunity to both learn about each other’s research projects and be acquainted with emergent issues in our field. Scholars from other institutions are also invited to present on their research. This year, our colleagues from the Research Group on Health and Law (Prof. Lara Khoury) and the Institute of Health and Social Policy (Prof. Daniel Weinstock) presented their work during our sessions.

x Research Ethics Workshop Series, February 4­ December 14 Under the supervision of Ma’n H. Zawati, the interactive series of Research Ethics Workshops taking place in the 2015 academic year allowed participants to get acquainted with ethical issues present in research. Each two­hour workshop explored an important ethical aspect of the research process by allotting time for both background information and dynamic case­based group discussion. The following themes were presented: Introduction to Research Ethics Review, Recruitment and Informed Consent, Privacy and Confidentiality, Commercialization, Research Integrity, and also Return of Research Results and Incidental Findings.

Jennifer Fitzpatrick x Member of the Conference Planning Committee and co­led a workshop at the 4th meeting of the Transnational Alliance for Genetic Counseling (TAGC) in Barcelona, Spain, in May.

Brian Gilfix x President, Canadian Association of Medical Biochemists, 2013 – present x Member, Board of Directors, Herzliah High School, Montreal, QC, 2015­present

Celia Greenwood x Joined board of directors of the International Genetic Epidemiology Society x Chaired the Program Committee for the Canadian Human and Statistical Genetics meeting in Vancouver, April 18­21, 2015.

Nada Jabado x Live Panel Discussion on DIPG in June/July 2015 edition of ASBMB Today (American Society for Biochemistry and Molecular Biology” Interview by Canal Savoir for TV series “Regards a l’avenir”, episode entitled “Un regard sur l’avenir de la médecine personnalisée” Invited Speaker: Soup and Science, McGill University, Title: Pediatric Brain Tumors x Invited Speaker: International Human Epigenome Consortium (IHEC) Science Day and Annual Meeting, Title: Environment and Disease Epigenomes, Tokyo, Japan, Nov 16­18, 2015. x Canadian Cancer Research Conference, Invited Speaker and Chair: Oncohistones Symposium, Title: Oncohistones, Montreal, QC, Nov 8­10, 2015. x Invited Speaker: Alex’s Young Investigator Summit 2015, Philadelphia, PA, USA Oct 19­21, 2015 x Keynote Speaker: Canadian Association of Neuropathology, Title: Epigenetics meet Genetics: a tale of pediatric brain tumors, Quebec City, QC, Oct 14­17, 2015. x Invited Speaker: National Brain Tumor Society (NBTS). Project Impact: Defeat Pediatric High­Grade Glioma Research Collaborative, NBTS Summit Boston, MA, USA Oct 14, 2015 x Invited Speaker: 47th Annual Congress of the International Society of Pediatric Oncology (SIOP), Title: Understanding Epigenetics: Finding New Therapeutic Targets. Cape Town, South Africa, October 7­11, 2015. x Invited Speaker: First International Pediatric Low Grade Glioma Symposium, Children’s National Health System, Washington DC, USA Sept 24 2015. x Invited Speaker: Oncohistone and Epigenetic Regulation Workshop, Memphis, TN, USA, Sept 2­3, 2015 x Invited Speaker: American Association of Cancer Research, Advances in Brain Cancer Research. Title: Epigenetic Addiction in Pediatric High Grade Gliomas. Washington, DC, USA, May 27­30, 2015. x Invited Speaker: Middle East Medical Assembly. Title: Pediatric Brain Tumors: an epigenetic disease of the developing brain. Beirut, Lebanon May 7­10, 2015 x Invited Speaker: First International Gliomatosis Cerebri Annual Meeting, Paris, France, March 26­27, 2015 (Declined due to scheduling conflict) x Invited Speaker: MUHC/McGill Homecoming and Medical Symposium for the Alumni of The MUHC, Title: Continuing the Tradition of Research Excellence, Glen Site of the MUHC, Montreal QC, March 25, 2015. x Invited Speaker: Pediatric Infiltrating Glioma Symposium. Title: Discovery and Biomarkers in pHGA: what is next? San Francisco, CA, USA, February 5­8, 2015. x Invited Speaker: NIH­NCI Pediatric Genomics workshop. Title: High grade gliomas. Bethesda, MD, USA, February 4­5, 2015. x Invited Speaker: Tisch Cancer Institute, Mount Sinai School of Medicine, NYC, Epigenetics Seminar Series. Title: Oncohistones: a new paradigm in pediatric and young adult cancers. New York City, NY, USA, January 22, 2015.

Jonathan Kimmelman x Served on the US institute of medicine "committee on the ethical and social policy considerations of novel techniques for prevention of maternal transmission of mitochondrial DNA diseases.” committee made its recommendations in January 2016 to the FDA. x Chaired the international society of stem cell research task force on guidelines for stem cell research and clinical translation. x One of two Canadian speakers at the U.S. national academies of sciences / royal society / Chinese academy of sciences summit on human gene editing (the other being my colleague and fellow genetics cross appointee, Richard Gold). x Received the Humboldt Friedrich Bessel Award ­

Josee Lavoie x Involvement with the Canadian College of Medical Geneticists (CCMG): Canadian College of Medical Geneticist (CCMG) examination committee and clinical practice committee member / Co­director of the McGill CCMG program.

Danielle Malo x Xavier Montagutelli (Institut Pasteur) : Genetic and microbiotal control of Salmonella carriage in chicken and mice. Project funded by Institut Carnot (€150,000) x Marco Prinz (University of Freiburg, Germany) : role of Usp18 in the central nervous system (collaborative work published in EMBO) x Peter Oliver (University of Oxford, UK) : role of Ncoa7 in the central nervous system (collaborative pilot project financed by Oxford McGill ZNZ Partnership in the Neurosciences) x Lawrence Goodridge (McGill University, MacDonald campus), Roger Levesques (Université Laval) and Samantha Gruenheid (McGill): Assessing virulence of different Salmonella serovars isolated from fresh produce with the aim of developing better control strategies. This is a large pan­Canadian project.

External Reviewer x Université de Montréal. Évaluation du programme de maîtrise et de doctorat en sciences vétérinaires. x FRQS_Évaluation du centre de recherche du centre hospitalier de l’université de Montréal (CR­CHUM). Évaluateur de l’axe Insulte tissulaire, infection, immunité et inflammation

Roderick McInnes x Guest Presenter at the 2015 McKnight Annual Neuroscience Conference, one of the world’s leading neuroscience meetings x Member, Board of Directors of the Burroughs Wellcome Fund (USA) (~$800 million in assets), one of the leading medical research funding agencies in the US, an organization to which Canadians are eligible to apply (since 2011). x Member, Board of Directors of the Canadian Foundation for Innovation (CFI), the national funding agency that supports infrastructure grants for research. This is a very impressive organization that has had perhaps a greater positive impact on Canadian biomedical research than any other Canadian agency over the past 15 years, having granted billions of dollars to projects such as new research buildings, large expensive research equipment, and the outfitting of laboratories for investigators (since 2012). x Member, Extramural Scientific Panel, National Human Genome Research Institute, NIH, USA (2015­present) x Member, Medical Advisory Board of the Gairdner Foundation (this panel selects the recipients of the Gairdner Awards, one of the most important “pre­Nobel” prizes in medical research)(from 2009­2015) x Member, Nomination Committee for College Chairs, Canadian Institutes of Health Research

Roberta Palmour x Scientific Director, Behavioural Science Foundation, St Kitts Ioannis Ragoussis x Dream Team member of CIBC Canadian Stand Up To Cancer, Breast Cancer Dream Team award (co­Investigator) x Member of the international IGENTrain Consortium in transplantation genetics. x Taken part as presenter n the Global University Conference at Kyoto University, Japan x Lead instructor in the International Wellcome Trust Advanced Course in Functional Genomics, taking place at the Wellcome Trust Sanger Institute, UK (June 2015) x Co­manager of the Queen Elizabeth II PhD program (co­applicant). Recruited postgraduate students from Ghana and Nigeria to the Department.4. Community engagement: Chair of the Helenic Scholarship Foundation Academic Committee, responsible for assessing scholarship applications in 2015. Twelve awarded to graduate and postgraduate students.

Brent Richards x Canadian Society of Clinical Investigation (CSCI) 2015 Joe Doupe Young Investigator Award. “To recognize outstanding research accomplishments in the first eight years of an investigator’s independent career”. $1,000 over one year. x William Dawson Scholar Award. McGill University. To “…recognize a scholar developing into an outstanding and original researcher of world­class caliber who is poised to become a leader in his or her field, similar to that of a CRC Tier 2.” $125,000 over five years. x McGill Bravo Award. To “Celebrate the cream of the researcher crop” at McGill University for “…winners of major provincial, national and international prizes”. x 4 editorial board memberships: Journal of Bone and Mineral Research, International Journal of Epidemiology, Journal of Medical Genetics, Genomics in Medicine – A Nature Publishing Journal

David Rosenblatt x One Carbon Metabolism, Vitamins B, and Homocysteine, 10th International Conference, Nancy, France x CanSupport volunteer­McGill Univeristy Health Centre (MUHC)

Rima Rozen x Member of the Institute Advisory Board for the Institute of Genetics, CIHR; member of the CIHR review panel for Nutrition, Food and Health

Honours, Awards, and Prizes

Nada Jabado Fellow, Royal Society of Canada, Academy Of Science, Life Sciences Division Prestigious Researcher and Member Emeritus, Atena Foundation Scientific Committee

Bartha Maria Knoppers, Director of the CGP, was recipient of the Paul­André­Crépeau Medal from the Canadian Bar Association, Quebec Division, related to her contribution to the advancement of international aspects of private and comparative law

Tomi Pastinen; Xiaojian Shao (PDF co­supervision with Elin Grundberg) – Awarded 2015­16 RI MUHC Studentship & Fellowship

Ioannis Ragoussis; Awarded the title of Distinguished Visiting Professor at King Abdulaziz University, S.A. Delivered series of lectures on Genomics in November 2015.

David Rosenblatt; Being named Honorary President of the International Vitamin B12 Conference in Nancy, France

Peter Roughley; Lifetime Achievement Award from the Philadelphia Spine Research Society and the Orthopaedic Research Society.

Rima Rozen; Trainee awards: Nancy Levesque, FRQS Postdoctoral Award; Renata Bahous, McGill Faculty of Medicine Scholarship

Charles Scriver; ASHG Honors Charles R. Scriver with Victor A. McKusick Leadership Award

René St­Arnaud; Appointed as Director of Research, Shriners Hospitals for Children – Canada (May 2015); Appointed as the Francis Glorieux Professor of Pediatric Musculoskeletal Research (July 2015)(Endowed McGill Research Chair); Named, Chairman, Board of Directors Canadian Council on Animal Care (Non­profit organization responsible for animal ethics and care in Canada)

Ma’n H. Zawati, Executive Director of the CGP, was recognized by McGill University through his receipt of the Queen Elizabeth II Diamond Jubilee Scholarship and was also named as a Royal Society of Canada “2015 Young Scientist”