Dr. Stephen Scherer receives Debrecen Award for Molecular Medicine

Dr. Stephen Scherer, Chief of Research at The Hospital for Sick Children (SickKids), has been awarded the Debrecen Award for Molecular Medicine for his contributions to the paradigm-shifting discovery of genome-wide copy number variation (CNV) and its pivotal role in influencing key genes implicated in numerous medical conditions, particularly autism spectrum disorder (ASD). 

“I am deeply grateful to the University of Debrecen for this award and remain dedicated to deciphering the complexities of the human genome, both for the advancement of genomic research and for the ultimate goal of enhancing patient care,” says Scherer, who is also the Director of the University of Toronto McLaughlin Centre.

Scherer’s research has revolutionized our understanding of genetic variation and its implications for human health. Building on comparative sequencing studies of human chromosome 7 in the early 2000s, Scherer’s contributions to groundbreaking research in Nature Genetics revealed that CNVs – involving the loss or gain of entire genes or gene segments and once thought to be rare – are a widespread phenomenon across the human genome and all other species. 

This insight catalyzed a major shift in biology, informing significant breakthroughs in defining the genetic makeup of ASD and other neurodevelopmental conditions, including categorizing subtypes of ASD and identifying over 100 susceptibility genes.  

Building on these findings, Scherer partnered with other scientists and members of the ASD community to found or co-found numerous projects aimed at further describing the genomic structure of ASD and other health conditions, including the Autism Genome Project, The Canadian Personal Genome Project, The Database of Genomic Variants, the Autism Speaks MSSNG 10,000 Project, the CANSEQ150, and most recently the Canadian COVID-19 Host Genome Sequencing Project. 

As Chief of Research, Senior Scientist in the Genetics & Genome Biology program and Director of The Centre for Applied Genomics (TCAG) at SickKids, Scherer and his team have been instrumental in advancing genomic research. Under his guidance, TCAG has become one of the world’s leading centres for genomic analysis, contributing to numerous international projects and collaborations.  

“This award is a well-deserved acknowledgment of Dr. Scherer’s tireless dedication to improving patient care through scientific discovery, embodying the spirit of innovation and excellence that SickKids strives for,” says Dr. Ronald Cohn, President and CEO of SickKids. “His scientific leadership and commitment to translational research has not only bolstered our institution’s global reputation in genomic science but also underpins our Precision Child Health movement.”