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The Hospital for Sick Children (SickKids)

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About Stephen

Stephen W. Scherer serves as Chief of Research at The Hospital for Sick Children (SickKids), where he is also a Senior Scientist in the Genetics & Genome Biology program and Director of The Centre for Applied Genomics. He holds the Northbridge Chair in Paediatric Research and is a Professor in the Department of Molecular Genetics at the University of Toronto, as well as Director of the McLaughlin Centre and a Distinguished University Professor. Scherer earned a PhD in Molecular and Medical Genetics from the University of Toronto in 1995, following an M.Sc. in Medical Biophysics from the same institution in 1991 and an Honours B.Sc. in Biology and Chemistry from the University of Waterloo in 1987. He has received honorary Doctor of Science degrees from the University of Windsor, the University of Waterloo, and Western University.

Scherer’s research focuses on the composition of the human genome and its role in genetic disease, with emphasis on gene copy number and structural variation, the genetic architecture of autism spectrum disorders, and the development of infrastructure for translational genomics research in Canada. He has co-authored more than 690 papers in leading journals including Nature, Nature Genetics, Science, and the New England Journal of Medicine. Key contributions include the sequencing of human chromosome 7 in 2003, the detection of large-scale copy number variation in 2004, and multiple studies on structural variation in autism spectrum disorder published in 2008, 2017, and 2022. Scherer has founded or co-founded major initiatives such as the Autism Genome Project, the Database of Genomic Variants, and the MSSNG project. His work has been recognized with numerous honors, including the Killam Prize in Health Sciences in 2019, election as a Fellow of the Royal Society of Canada in 2006, the Thomson Reuters Citation Laureate in Physiology or Medicine in 2014, and designation as a Highly Cited Researcher. He has supervised dozens of graduate students and postdoctoral fellows and delivered over 440 invited presentations worldwide.

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