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Dr. Stephen Scherer

Executive Committee



Executive Committee


Dr. Scherer holds the GlaxoSmithKline-Canadian Institutes of Health Research Endowed Chair in Genome Sciences at The Hospital for Sick Children and University of Toronto (UofT) and he is Director of the UofT McLaughlin Centre and The Centre for Applied Genomics (TCAG). He is a graduate of the Genetics and Genomics Program at SickKids completing his PhD with Dr. Lap-Chee Tsui (1995). He has made numerous contributions to medical genetics including mapping sequencing and disease gene studies of the human genome. In 2004, his team co-discovered global gene copy number variation (CNV) as a common form of genetic variation in human DNA. His group then identified CNV to contribute to the aetiology of autism and many other disorders, and the Database of Genomic Variants he founded facilitates hundreds of thousands of clinical diagnoses each year. His work is documented in >350 publications and patents cited more than 25,000 times placing him in the top 100 most-cited genetics scientists in the world. Dr. Scherer has won numerous honors such as the 2004 Steacie Prize, an Howard Hughes Medical Institute Scholarship, and the 2008 Premier's Summit Award for Medical Research. He is a distinguished Fellow of the Canadian Institute for Advanced Research, the American Association for the Advancement of Science, and the Royal Society of Canada.

Areas of Focus

Human genome structure and function, genomic of neurodevelopmental disorders