Stephen W. Scherer
Professor Scherer is one of Canada’s leading scientists whose research has revolutionized the understanding of the human genome. He is internationally known for contributions to decoding the sequence of human chromosome 7, and for the identification of numerous disease-causing genomic alterations, most notably those involved in Autism Spectrum Disorder. His dedicated focus on researching Autism Spectrum Disorder has changed the field completely by establishing this behaviorally defined condition as one having a biological basis and by facilitating earlier diagnosis, better medical management, and novel approaches to treatment. His research group co-discovered the phenomena of genome-wide copy number variation as a common type of variation in the human genome contributing to a ground-breaking insight into disease mechanisms and evolution. His research has demonstrated how genomics impacts health care, as perhaps best exemplified through his Database of Genomic Variants, the world’s first and most utilized copy number variation database, which facilitates thousands of clinical diagnoses around the world every day.