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Stephen W. Scherer

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Stephen Wayne 'Steve' Scherer, PhD, DSc, FRSC, is a Canadian scientist whose research has transformed the understanding of human genetic variation and its role in disorders such as autism. He obtained his PhD at the University of Toronto under Professor Lap-chee Tsui, discoverer of the cystic fibrosis gene. Together they founded Canada's first human genome centre, the Centre for Applied Genomics (TCAG) at The Hospital for Sick Children. He continues to serve as Director of the multi-million dollar TCAG, and is also Director of the McLaughlin Centre, a $100M initiative in genomic medicine at the University of Toronto, Faculty of Medicine.

His group has made several discoveries, documented in over 375 publications and patents cited more than 40,000 times, positioning him as one of the most prolific scientists of his generation. He founded the Database of Genomic Variants, which facilitates hundreds of thousands of clinical diagnoses each year. His philosophy in science and life is "a goal equals an assist"; that is, advancing discovery or well being individually or through collaboration should be equally encouraged and valued. He was quite possibly the first Canadian to have his genome sequenced, but has stated he hasn't had much time to look at the data yet.

Contributions to Science

His pioneering discoveries contributed to the initial description of genome-wide copy number variations (CNVs) of genes and DNA, including defining CNV as a highly abundant form of human genetic variation. Previous theory held that humans were 99.9% DNA identical with the small difference in variation almost entirely accounted for by some 3 million single nucleotide polymorphisms (SNPs) per genome. Larger genomic CNV changes involving losses or gains of thousands or millions of nucleotides encompassing one or several genes were thought to be exceptionally rare, and almost always involved in disease. [9] Dr. Scherer's discovery of frequent CNV events found in the genomes of all cells in every individual, co-published with Dr. Charles Lee of Harvard in 2004, [15] opened a new window for studies of natural genetic variation, evolution and disease. "When the scientific establishment didn't believe it, we knew we were on to something big. In retrospect, it's so simple to see these copy number variations were not at all biological outliers, just outliers of the scientific dogma of the time," recalled Scherer.

Scherer and Lee and collaborators at the Wellcome Trust Sanger Institute then generated the first CNV maps of human DNA revealing the structural properties, mechanisms of formation, and population genetics of this previously unrecognized ubiquitous form of natural variation. [12] [7] These studies were also the first to discover that CNVs number in the thousands per genome and encompass at least ten times more DNA letters than SNPs, revealing a dynamic patchwork structure of chromosomes. These findings were further substantiated through work with J. Craig Venter's team, [13] which contributed to the completion of the first genome sequence of an individual. [10]

From 2007 to 2010, Scherer and collaborators went on to discover numerous disease-associated CNVs and the corresponding disease-susceptibility genes in upwards of 10 per cent of individuals with autism spectrum disorder(ASD) [11] [8] [4]. These discoveries have led to broadly available tests facilitating early diagnostic information for thousands of families with autism worldwide. [5] [6] [3] [2]. In 2013, Scherer's team, alongside collaborators at the Beijing Genomics Institute, Duke University and Autism Speaks USA, used whole genome sequencing to find genetic variants of clinical relevance in Canadian families with autism. [1] Watch an interview with Dr. Scherer on The Agenda discussing DNA testing in autism or view online Q&As at "What is Autism" and at The Naked Scientists.

From 1988 to 2003, Scherer, and Lap-chee Tsui led studies of human chromosome 7, specifically in the mapping phase of the Human Genome Project. Through collaborative research, genes causative in holoprosencephaly, [25] [24] renal carcinoma, [23] Williams syndrome, [18] [14] sacral agenesis, [21] citrullinemia, [20] renal tubular acidosis, [19] and many others were identified. His group also discovered the largest gene in the genome, which was later found to be involved in autism. The sum of this work including contributions from scientists worldwide and J. Craig Venter's Celera Genomics, generated the first published description of human chromosome 7. [16] In other studies with Dr. Berge Minassian, disease genes causing deadly forms of epilepsy were identified, [22] [17] immensely impacting the lives of families suffering from this devastating disease. In 2012, Scherer and colleagues launched the Personal Genome Project Canada.

Publications, media

Some 375 publications in the world's leading scientific journals like Nature, Science, Nature Genetics and the New England Journal of Medicine document his work. These discoveries have been headlined in the New York Times, Globe and Mail, The Independent, South China News, as well as Time, Newsweek, CNN, Reader's Digest, Scientific American, The Walrus, the Harvard Business Review, Playboy, and others. He appears regularly on the Canadian Broadcasting Corporation (CBC) and other national TV, radio, and media, including Quirks and Quarks, explaining scientific breakthroughs. Some video interviews can be viewed at YouTube. He was featured in Roger Martin's book The Design of Business. He has delivered lectures in over 50 countries. He has also put his hand into the film industry, serving as the scientific consultant for two documentaries including the MediCinema Film creation, Cracking the Code, the continuing saga of genetics, and the Gemini Award-winning documentary, After Darwin by GalaFilms-Telefilm Canada. He also recently advised on the book The Juggler's Children: A Journey in Family, Legend and the Genes that Bind Us (author Carolyn Abraham).


He was born (January 5, 1964) the second son of four boys to Eduard Scherer (born March 17, 1937) and Margaret Louise Scherer (née Stuhlmueller; born August 20, 1937) in the working-class neighborhood of Riverside in Windsor, Ontario. His brothers are Curtis Eduard Scherer (born April 21, 1961), Michael Allan Scherer (born July 15, 1967) and Robert Frank Scherer (born August 24, 1970). His parents remember his early years as being filled with days playing and exploring nature. He attended Prince Charles Public School, Edith Cavell Junior High and Riverside Secondary School. He skipped the second grade, which he said left him "always having to work a bit harder or be a bit smarter to beat those who were older." He played competitive hockey and baseball winning numerous provincial and national championships. He said, "most of the battles he would face in life had already played out on the fields of Riverside." He completed his Honours Science Degree at the University of Waterloo, Master of Science and Doctor of Philosophy in the Faculty of Medicine at the University of Toronto. His eighth grade teacher said he could be prime minister, whereas a disgruntled professor was emphatic that he would amount to nothing. "The latter words had more impact," said Scherer when he accepted the first Distinguished Science Alumni Award at the 50th Anniversary of the University of Waterloo. "Failure should be momentary and motivating."

He married Sharon "Jo-Anne" Herbrick (born March 13, 1972) on February 2, 2002 in the Timothy Eaton Memorial Church in Toronto. They reside in Swansea/ High Park area of Toronto and Oak Lake, Kawartha region in Ontario with their children Josef Stephen Scherer (born April 4, 2004) and Julianna Margaret Scherer (born January 26, 2006).


Hundreds of students, clinicians and scientists have trained with his team with alumni holding clinical, academic or government appointments. A list of alumni can be found on The Centre for Applied Genomics website.

Selected Articles and Other Media

Honours, awards, appointments

Professor Scherer holds the GlaxoSmithKline-Canadian Institutes of Health Research Chair in Genome Sciences at The Hospital for Sick Children and University of Toronto. He has won numerous honours including:


  1. Jiang et al. Detection of clincally relevant genetic variants in Autism Spectrum Disorder by whole-genome sequencing. 2013. American Journal of Human Genetics, ePub ahead of print July 10, 2013. Google Scholar citation
  2. Sato et al. SHANK1 Deletions in Males with Autism Spectrum Disorder. 2012. American Journal of Human Genetics 90, 879-887. Google Scholar citation
  3. Vaags et al. Rare deletions at the neurexin 3 locus in autism spectrum disorder. 2012. American Journal of Human Genetics 90, 133-141. Google Scholar citation
  4. Pinto et al. Functional impact of global rare copy number variation in autism spectrum disorders. 2010. Nature 466, 368-372. Google Scholar citation
  5. Berkel et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 2010. Nature Genetics 42, 489-91 Google Scholar citation
  6. Noor et al. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 2010. Science Translational Medicine 2, 49ra68. Google Scholar citation
  7. Conrad et al. Origins and functional impact of copy number variation in the human genome. 2009. Nature 464, 704-12. Google Scholar citation
  8. Marshall et al. Structural variation of chromosomes in autism spectrum disorder. 2008. American Journal of Human Genetics 82, 477-88. Google Scholar citation
  9. DNA deletions and duplications help determine health. September 7th, 2007. Science
  10. Levy et al. The diploid genome sequence of an individual human. 2007. PLoS Biology 5, e254. Google Scholar citation
  11. Autism Genome Project, Szatmari et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. 2007. Nature Genetics 39, 319-328. Google Scholar citation
  12. Redon et al. Global variation in copy number in the human genome. 2006. Nature 444, 444-454. Google Scholar Citation
  13. Khaja et al. Genome assembly comparison to identify structural variants in the human genome. 2006. Nature Genetics 38, 1413-1418. Google Scholar citation
  14. Sommerville et al. Severe expressive-language delay related to duplication of the Williams-Beuren Locus. 2005. New England Journal of Medicine 353, 1694-1701. Google Scholar citation
  15. Iafrate et al. Detection of large-scale variation in the human genome. 2004. Nature Genetics 36, 949-951 Google Scholar citation
  16. Scherer et al. Chromosome 7: DNA Sequence and Biology. 2003. Science 300, 767-772. Google Scholar citation
  17. Chan et al. Mutations in NHLRC1 cause progressive myoclonus epilepsy. 2003. Nature Genetics 35, 125-127. Google Scholar citation
  18. Osborne et al. A 1.5 million base pair inversion polymorphism in families with Williams-Beuren syndrome. 2001. Nature Genetics 29, 321-325. Google Scholar citation
  19. Smith et al. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. 2000. Nature Genetics 26, 71-75. Google Scholar citation
  20. Kobayashi et al. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. 1999. Nature Genetics 22, 159-163. Google Scholar citation
  21. Ross et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. 1998. Nature Genetics 20, 358-361. Google Scholar citation
  22. Minassian et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. 1998. Nature Genetics 20, 171-174. Google Scholar citation
  23. Schmidt et al. Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. 1997. Nature Genetics 16, 68-73. Google Scholar citation
  24. Roessler et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. 1996. Nature Genetics 14, 357-360. Google Scholar citation
  25. Belloni et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. 1996. Nature Genetics 14, 353-356. Google Scholar citation