Stephen W. Scherer

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Stephen W. Scherer
Stephen W Scherer April2011.jpg
Born Stephen Wayne Scherer
(1964-01-05) January 5, 1964 (age 54)
Windsor, Ontario, Canada
Residence Toronto, Ontario, Canada
Nationality Canadian
Alma mater University of Waterloo (B.Sc.)
University of Toronto (M.Sc., Ph.D.)
Jo-Anne Herbrick (m. 2002)
Children 2
Scientific career
Doctoral advisor Tsui Lap-chee

Stephen Wayne "Steve" Scherer (born January 5, 1964) is a Canadian scientist who studies genetic variation in human disease. He obtained his PhD at the University of Toronto under Professor Lap-chee Tsui. 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 TCAG, and is also Director of the McLaughlin Centre at the University of Toronto Faculty of Medicine.


Scherer was born in Windsor, Ontario, the second son of four boys to Eduard Scherer and Margaret Louise Scherer (née Stuhlmueller) in. His brothers are Curtis Eduard Scherer, Michael Allan Scherer and Robert Frank Scherer. He attended Prince Charles Public School, Edith Cavell Junior High and Riverside Secondary School. He played competitive hockey and baseball winning numerous provincial and national championships.[1] He completed his Honors Science Degree at the University of Waterloo, Master's of Science and Doctor of Philosophy in the Faculty of Medicine at the University of Toronto.

He married Sharon "Jo-Anne" Herbrick 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 and Julianna Margaret Scherer.


Scherer's discoveries led 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.[2] 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.[3][4][5] 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.[6] Scherer's discovery of frequent CNV events found in the genomes of all cells in every individual, co-published with Charles Lee of Harvard in 2004,[7] opened a new window for studies of natural genetic variation, evolution and disease. Scherer recalled, "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".[8]

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.[9][10] 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,[11] which contributed to the completion of the first genome sequence of an individual.[12]

In the 2007-2010 period, Scherer and collaborators went on to discover numerous disease-associated CNVs, and the corresponding disease-susceptibility genes in upwards of 10% of individuals with autism spectrum disorder.[13][14][15] These discoveries have led to broadly available tests facilitating early diagnostic information for autism.[16][17][18][19][20][21][22][23][24][25][26][27] In 2013 with collaborators at the Beijing Genomics Institute, Duke University and Autism Speaks USA, Scherer's team used whole genome sequencing to find genetic variants of clinical relevance in Canadian families with autism.[28][29]

Earlier (1988–2003) with Lap-chee Tsui, he led studies of human chromosome 7, in particular in the mapping phase of the Human Genome Project.[30][31][32] Through collaborative research, genes causative in holoprosencephaly,[33][34] renal carcinoma,[35] Williams syndrome,[36][37] sacral agenesis,[38] citrullinemia,[39] renal tubular acidosis,[40] and many others were identified. His group also discovered the largest gene in the genome, which was later found to be involved in autism.[41] 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.[42] In other studies with Berge Minassian, disease genes causing deadly forms of epilepsy were identified.[43][44][45]

In 2012, Scherer and colleagues launched the Personal Genome Project Canada[46]


Scherer appears regularly on the Canadian Broadcasting Corporation (CBC) and other national TV, radio, and media, including Quirks and Quarks, explaining scientific discoveries.[47][48][49][50][51][52] He was featured in Roger Martin's book The Design of Business[53] and served as the scientific consultant for two documentaries, the MediCinema Film creation Cracking the Code, the continuing saga of genetics, and the Gemini Award-winning documentary, After Darwin by GalaFilms-Telefilm Canada.


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 been awarded Canada's Top 40 under 40 Award (1999), Honorary Doctorate-University of Windsor (2001), Scholar of the Howard Hughes Medical Institute (2002), Genetics Society of Canada Scientist Award (2002), the Canadian Institute for Advanced Research Explorer Award (2002), the Steacie Prize in the Natural Sciences (2004), Fellow of the Royal Society of Canada (2007), Fellow of the American Association for the Advancement of Science (AAAS) (2011) and the inaugural Distinguished Science Alumni Award-University of Waterloo (2007).

He is on the Scientific Advisory Board of Autism Speaks, the Board of Trustees of Genome Canada and the international Human Genome Organization, and is a Fellow of the Canadian Institute for Advanced Research. He won the $5 million Premier's Summit Award for Medical Research (2008) for his "seminal contributions in redefining our understanding of genetic variation and disease studies" .[citation needed] Recently he was also recognized as a Significant Sigma Chi (2011),[54] became a Distinguished High Impact Professor of the King Abdulaziz University, and was awarded the Queen Elizabeth II Diamond Jubilee Medal for unique contributions to Canada (2013).


  1. ^ Scherer, SW. A Common Humanity. Convocation Address. June 9, 2001. Address to the graduating class of the Faculty of Sciences and Engineering, University of Windsor.
  2. ^ Iafrate et al. Detection of large-scale variation in the human genome. 2004. Nature Genetics 36, 949-51. [1]
  3. ^ Patchwork people. October 20th, 2005. Nature.
  4. ^ Carolyn Abraham (November 23, 2006). "Study turns human genetics on its head". The Globe and Mail. 
  5. ^ Steve Olson (November 2007). "The changing face of DNA" (PDF). Howard Hughes Medical Institute Bulletin. 
  6. ^ DNA deletions and duplications help determine health. September 7th, 2007. Science.
  7. ^ Iafrate et al. Detection of large-scale variation in the human genome. 2004. Nature Genetics 36, 949-951. Google Scholar citation
  8. ^ Conversation. Two leading researchers discuss the value of oddball data. November 2009. An interview with Stephen Scherer and Roger Martin. Harvard Business Review.
  9. ^ Redon et al. Global variation in copy number in the human genome. 2006. Nature 444, 444-454. Google Scholar Citation
  10. ^ Conrad et al. Origins and functional impact of copy number variation in the human genome. 2009. Nature 464, 704-12. Google Scholar citation
  11. ^ Khaja et al. Genome assembly comparison to identify structural variants in the human genome. 2006. Nature Genetics 38, 1413-1418. Google Scholar citation
  12. ^ Levy et al. The diploid genome sequence of an individual human. 2007. PLoS Biology 5, e254. Google Scholar citation
  13. ^ 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
  14. ^ Marshall et al. Structural variation of chromosomes in autism spectrum disorder. 2008. American Journal of Human Genetics 82, 477-88. Google Scholar citation
  15. ^ Pinto et al. Functional impact of global rare copy number variation in autism spectrum disorders. 2010. Nature 466, 368-372. Google Scholar citation
  16. ^ 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
  17. ^ 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
  18. ^ 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
  19. ^ Sato et al. SHANK1 Deletions in Males with Autism Spectrum Disorder. 2012. American Journal of Human Genetics 90, 879-887. Google Scholar citation
  20. ^ Science City: Racing to solve the puzzle of autism. January 5th, 2008. Globe and Mail.
  21. ^ Canadian breakthrough offers hope on autism. February 19th, 2007. Globe and Mail
  22. ^ Solving puzzle of son's autism soothes family. January 18th, 2008. Toronto Star
  23. ^ Researchers discover genetic patterns of autism. June 9th, 2010. Time Magazine
  24. ^ Genetic finding paves way for controversial autism testing. June 10th, 2010. Globe and Mail
  25. ^ Autism genetics: A breakthrough that sheds light on a medical mystery. June 10th, 2010. The Independent
  26. ^ Understanding Autism. Spring 2011. University of Toronto Magazine
  27. ^ Special Series: Autism's new frontiers. February 17th, 2013. Ottawa Citizen
  28. ^ Canadian-led team delves deep into genetic code of autistic individuals. July 11th, 2013. Globe and Mail.
  29. ^ Jiang et al. Detection of clinically 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
  30. ^ The treasures of chromosome 7. Autumn 2001. The University of Toronto Magazine
  31. ^ Walking the jungles and deserts of chromosome 7. September 2003. Howard Hughes Medical Institute Bulletin
  32. ^ Milestones in Canadian Health Research; Decoding life. 2010. Canadian Institutes of Health Research
  33. ^ Belloni et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. 1996. Nature Genetics 14, 353-356. Google Scholar citation
  34. ^ Roessler et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. 1996. Nature Genetics 14, 357-360. Google Scholar citation
  35. ^ 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
  36. ^ 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
  37. ^ 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
  38. ^ 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
  39. ^ 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
  40. ^ 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
  41. ^ Canadian scientists discover giant gene. February 10th, 2001. Globe and Mail.
  42. ^ Scherer et al. Chromosome 7: DNA Sequence and Biology. 2003. Science 300, 767-772. Google Scholar citation
  43. ^ 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
  44. ^ Chan et al. Mutations in NHLRC1 cause progressive myoclonus epilepsy. 2003. Nature Genetics 35, 125-127. Google Scholar citation
  45. ^ Gene hunters race against Lafora curse. September 27th, 2003. National Post
  46. ^ The Personal Genome Project: A brave new world for science and privacy. December 7th, 2012. Globe and Mail.
  47. ^ The human genome, and Pandora's box. Counterpoint: an interview with Margaret Wente. June 29th, 2000. Globe and Mail.
  48. ^ Scherer, SW. By knowing our genomes, we will begin to truly know ourselves. Commentary August 7th, 2007. Globe and Mail.
  49. ^ Scherer, SW. Perfect genomics. Question of the Year 2007. Nature Genetics.
  50. ^ Scherer, SW. 25 great ideas from great minds. January 4, 2007. Toronto Star.
  51. ^ Brainwashed. Rethinking man's genetic makeup. November 2010, The Walrus.
  52. ^ Scherer, SW. Genomics is the medium for 21st century biology. Editorial. 2012. Genome 55, v-vi.
  53. ^ The reliability bias in The Design of Business. Roger Martin. Harvard Business Press.
  54. ^

Further reading[edit]