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Stephen Scherer in a white lab coat

Stephen W. Scherer

Title: Chief of Research
Designations: PhD DSc FRSC
Alternate Contact Name: Allison Gignac
Alternate Phone: 416-813-6577
Alternate Email:
Chair Positions: Northbridge Chair in Paediatric Research
Other Positions: Director, The Centre for Applied Genomics

Research Positions

Senior Scientist, Genetics and Genome Biology

U of T Positions

Director, McLaughlin Centre

Professor, Department of Molecular Genetics

Senior Fellow, Massey College 



Dr. Stephen Scherer’s research includes understanding the composition of the human genome for studies of genetic disease built around three themes:

  1. gene copy number and structural variation in the human genome,
  2. determining the genetic architecture in autism spectrum and related- disorders and using this information to help families, and
  3. developing infrastructure and capacity in Canada for translational genomics research.

He has co-published over 690 papers and many of these have been in the highest impact periodicals, such as Nature, Nature Genetics, Nature Medicine, the New England Journal of Medicine, JAMA and Science. His research discoveries have also headlined in the New York Times, Globe and Mail, The Independent, Time, Newsweek, Scientific American, and he often appears on the Canadian Broadcasting Corporation (CBC), and other national media explaining scientific breakthroughs.

He achieved the distinction of Thomson Reuters Highly Cited Researcher. In 2014, he was selected to join a handful of elite scientists worldwide as a Thomson Reuters Citation Laureate for seminal contributions to the field of Physiology or Medicine “For the discovery of large-scale copy number variation and its association with specific diseases”, placing his name on the lifetime Thomson Reuters Hall of Laureates.

He holds leadership positions on numerous grants, and funding to his program has exceeded $350 million, impacting basic science and knowledge translation. He is Director of The Centre for Applied Genomics, managing $100 million of revenues in the past five years, and Director of the University of Toronto McLaughlin Centre, a $50 million endowment that funds research and education in genomic medicine. Through this dynamic translational research program, he has supervised 19 graduate students, 48 post-doctoral fellows, 54 visiting fellows and more than 200 undergraduate students; and these scientists are now working in 20 countries around the world. He has also delivered over 440 invited presentations in 29 countries. 

Dr. Scherer’s team uses advanced technologies to study genes and how they are involved in health and medicine, in particular the neurobehavioral disorder called autism. They study families, populations of people, and cellular and animal models. Their goal is to identify genetic markers for diagnosis to enable early identification, and to discover molecular pathways for new medicine development.

Dr. Scherer has also founded or co-founded 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.

Education and experience

  • 2018: D.Sc., Honorary Doctorate of Science, Western University
  • 2017: D. Sc., Honorary Doctorate of Science, University of Waterloo
  • 2000: D. Sc., Honorary Doctorate of Science, University of Windsor
  • 1995: PhD Molecular and Medical Genetics, University of Toronto
  • 1991: M.Sc. Medical Biophysics, University of Toronto
  • 1987: Hons. B.Sc. Biology and Chemistry, University of Waterloo


  • 2019: Killam Prize in Health Sciences, Canada Council for the Arts
  • 2018: Distinguished University Professor, University of Toronto
  • 2017: Distinguished Honorary Affiliate of the Canadian College of Medical Geneticists
  • 2015: World’s Most Influential Scientific Minds
  • 2015–Present: Thomson Reuters (now Clarivate) Highly Cited Researcher
  • 2014: Thomson Reuters 2014 “Nobel-class” Citation Laureate, Physiology or Medicine
  • 2013: Queen Elizabeth II Diamond Jubilee Medal for contributions to Canada
  • 2011: Fellow, American Association for the Advancement of Science
  • 2008: Premier’s Summit Award for Biomedical Research
  • 2006: Fellow, Academy of Sciences, Royal Society of Canada
  • 2004: Steacie Prize in the Natural Sciences
  • 2002–2007: Howard Hughes Medical Institute International Scholar Award
  • 2000: Canada’s Top 40 Under 40 Award for Contributions to Society


  1. *Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, +81 co-authors, and Venter JC, Li PW, Mural RJ, Adams MD, and Tsui LC. (2003). Human chromosome 7: DNA sequence and biology. Science 300, 767-772
  2. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, **Scherer SW and *Lee C. (2004). Detection of large-scale variation in the human genome. Nature Genetics 36, 949-951. 
  3. Marshall, AJHG 2008Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CEJ, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicholson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P and *Scherer SW. (2008). Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics 82, 477-488 
  4. Yuen RKC, Merico D, Bookman M, HoweJL, Thiruvahindrapuram B, +70 authors, and Szatmari P, Ring RH, Glazer D, Pletcher MT, and *Scherer SW. (2017). Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nature Neuroscience 20, 602-611.
  5. Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, Aliyev E, Patel RV, Nalpathamkalam T, Pellecchia G, Hamdan O, Kaur G, Wang Z, MacDonald JR, Wei J, Sung WWL, Lamoureux S, Hoang N, Selvanayagam T, Deflaux N, Geng M, Ghaffari S, Bates J, Young EJ, Ding Q, Shum C, D'Abate L, Bradley CA, Rutherford A, Aguda V, Apresto B, Chen N, Desai S, Du X, Fong MLY, Pullenayegum S, Samler K, Wang T, Ho K, Paton T, Pereira SL, Herbrick JA, Wintle RF, Fuerth J, Noppornpitak J, Ward H, Magee P, Al Baz A, Kajendirarajah U, Kapadia S, Vlasblom J, Valluri M, Green J, Seifer V, Quirbach M, Rennie O, Kelley E, Masjedi N, Lord C, Szego MJ, Zawati MH, Lang M, Strug LJ, Marshall CR, Costain G, Calli K, Iaboni A, Yusuf A, Ambrozewicz P, Gallagher L, Amaral DG, Brian J, Elsabbagh M, Georgiades S, Messinger DS, Ozonoff S, Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW. (2022). Genomic architecture of autism from comprehensive whole-genome sequence annotationCell. 185(23):4409-4427.e18. 

*Senior and/or equal corresponding author

See a full list of Dr. Scherer's publications on PubMed or Google Scholar.

Organizational Chart

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  • 04/2023–03/2029: Scherer (PI), Lathrop (Co-I), Jones (Co-I), Aziz (Co-I). CGEn – Canada’s national facility for genome sequencing and analysis. Canada Foundation for Innovation, Major Science Initiative. $40,750,555.
  • 12/2022–11-2024: Kalish (PI), Scherer (Co-I). Discovery of Novel Autism-Associated Variation in Brain Miniproteins (1R03MH131958-01). National Institutes of Health (NIH). $54,000 USD.
  • 10/2022–03/2024: Fiume (PI), Scherer (Co-I) et al. Canadian Platform for Precision Health. Canada’s Digital Technology Supercluster and funding partners. $14,443,612.
  • 04/2022–03/2025: Weksberg (PI), Scherer (Co-I). Functional annotation of gene variants in ASD risk genes using DNA methylation signatures. Simons Foundation Autism Research Initiative (SFARI). $1,197,421 USD.
  • 04/2021–03/2026: Scherer (PI), Lathrop (Co-I), Jones (Co-I) et al. CGEn – A National Platform for Genome Sequencing and Analysis. Canada Foundation for Innovation, Innovation Fund 2020. $27,879,482.
  • 04/2021–03/2026: Scherer (PI-subaward), Sebat, Sullivan and the PGC3. Psychiatric GWAS Consortium (PGC3): Advancing Discovery and Impact. National Institute of Health (NIH). $392,040 USD.
  • 01/2021–12/2024: Jones (PI), Murray (PI), Scherer (Co-I). The Canadian BioGenome Project. Genome Canada – Genomic Solutions for Natural Resources and the Environment. $6,500,000.
  • 01/2021–12-2023: Scherer (PI). MSSNG. Autism Speaks. $1,136,124.
  • 06/2019–03/2024: Vorstman (PI), Scherer (co-PI), Bassett (Co-PI). Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders. National Institutes of Health (NIH). $2,667,030 USD.
  • 10/2017–01/2024: Fakhro (PI), Scherer (Co-I) et al. Building a national resource for the advancement of knowledge of autism in Qatar. Qatar National Research Fund. $1,049,412 USD.
  • 07/2015–03/2025: Scherer (PI). Genomes to Outcomes in Autism Spectrum Disorders, Canadian Institutes of Health Research (Foundation Scheme), $2,204,198.
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