SickKids Research Chief Dr. Stephen Scherer receives King Salman International Award for Disability Research
Summary:
The honour recognizes Dr. Scherer’s contributions to genomic medicine and the diagnosis of genetic disease.
Dr. Stephen Scherer, Chief of Research at The Hospital for Sick Children (SickKids), has received a prestigious 2026 King Salman International Award for Disability Research in recognition of his contributions to genomic medicine and the diagnosis of genetic disease.
The first Canadian to win the award, Scherer is one of seven recipients worldwide selected from nearly 800 nominations representing 111 countries. Presented by the King Salman Center for Disability Research in Riyadh, Saudi Arabia, the awards celebrate careers of impact, recognizing scientific excellence, community service and commercialization.
"I'm honoured to be among a small group of such high-calibre professionals who work so diligently to advance the fields of disability research and innovation forward," says Scherer, who is also a Senior Scientist, Genetics & Genome Biology and Director of The Centre for Applied Genomics (TCAG) at SickKids and a Professor and Director of the McLaughlin Centre at the University of Toronto. “I’m proud to have pursued this work in Toronto, and Canada as a whole, where a strong commitment to science and collaboration is driving translational discoveries.”
Legacy connected to CNV discovery
Among Scherer's more than 750 publications is a landmark 2004 study in Nature Genetics that fundamentally changed scientific understanding of the human genome. The research, and subsequent studies, helped demonstrate that copy number variations (CNVs) — deletions, additions or reorganized parts of DNA that can cause disease — are common throughout the genome, rather than exceptionally rare as previously believed and influence someone's physical or behavioural traits and their future risk for certain genetic disorders.
This discovery laid the foundation for identifying CNVs and the genes they affect as contributors to the genetic underpinnings of conditions such as autism and other neurodevelopmental disorders. The discovery opened entirely new avenues for research and clinical care, which Scherer himself has used to identify genes and CNVs that are associated with autism spectrum disorder.
Throughout his career, Scherer has championed collaboration and open science, founding or leading major global resources and initiatives including TCAG, the Database of Genomic Variants, the Autism Speaks MSSNG Project and, more recently, PCHSeq, which aims to support Canada’s largest-ever collection of human genomic data.
Scherer will receive the King Salman International Award for Disability Research and deliver a special lecture in Riyadh on October 11. Learn more about the award.