Stephen Scherer
Professor Stephen Scherer, PhD DSc FRSC is Chief of Research and holds the Northbridge Chair in Paediatric Research at The Hospital for Sick Children (SickKids) and University of Toronto. He is also the scientific lead of CGEn, Canada’s National Infrastructure for Genome Sequencing and Informatics. His team contributed to the landmark discovery of global gene copy number variation (CNV) as a common form of genetic variation in human DNA. As part of this discovery he founded the Database of Genomic Variants, which now catalogues >2 million CNVs, and is used to facilitate hundreds of thousands of clinical diagnoses worldwide each year.
His group also contributed to the discovery of CNV of specific genes involved in brain development to contribute to Autism Spectrum Disorder. He has won honors such as the Steacie Prize, a Howard Hughes Medical Institute Scholarship, the Killam Prize, the Debrecen Award for Molecular Medicine, and multiple Honorary degrees. He is a Fellow of the American Association for the Advancement of Science and the Royal Society of Canada. In 2014, he was selected as an esteemed Thomson Reuters (now Clarivate) Citation Laureate in Physiology and Medicine for “the discovery of large-scale copy number variation and its association with specific diseases.”