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==Research==
==Research==
Scherer has co-published over 700 scholarly papers and book chapters.<ref>[https://pubmed.ncbi.nlm.nih.gov/?term=scherer+sw Stephen W. Scherer]. The National Library of Medicine.</ref> He has been on the Thomson Reuters Highly Cited Researcher and World’s Most Influential Scientific Minds list (2015-2018).<ref>{{Cite web |title=Hall of Citation Laureates - 2023 |url=https://clarivate.com/citation-laureates/hall-of-citation-laureates/ |access-date=2023-12-27 |website=Clarivate |language=en}}</ref><ref>[https://www.ludwigcancerresearch.org/wp-content/uploads/2018/09/37a987a9-e378-4888-8baa-d4ba20efdbfd_tr_scientific_minds_online_final.pdf The World’s Most Influential Scientific Minds list, 2015 (PDF)]. Thomas Reuters.</ref> His Google Scholar h-index=156; 123,046 citations.<ref>{{Cite web |title=Scherer, Stephen W. |url=https://scholar.google.ca/citations?user=NKTqN4IAAAAJ&hl=en |access-date=2023-12-27 |website=scholar.google.ca}}</ref> In 2023, with Ronald D. Cohn and Ada Hamosh, he edited ''Thompson & Thompson Genetics and Genomics in Medicine, 9<sup>th</sup> Edition'', Elsevier Publishers.<ref>{{Cite book |last=Cohn |first=Ronald |title=Genetics and Genomics in Medicine |last2=Scherer |first2=Stephen W. |last3=Hamosh |first3=Ada |publisher=Thompson & Thompson |year=2023 |isbn=9780323547628 |edition=9th}}</ref>
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.<ref>Iafrate et al. Detection of large-scale variation in the human genome. 2004. Nature Genetics 36, 949-51. [http://www.nature.com/ng/journal/v36/n9/full/ng1416.html]</ref> 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.<ref>Patchwork people. October 20th, 2005. Nature.</ref><ref>{{cite journal|url=https://www.theglobeandmail.com/life/study-turns-human-genetics-on-its-head/article1110622/?page=all|title=Study turns human genetics on its head|date=November 23, 2006|journal=The Globe and Mail|author=Carolyn Abraham}}</ref><ref>{{cite journal|url=http://www.hhmi.org/sites/default/files/Bulletin/2007/November/nov2007_fulltext.pdf|title=The changing face of DNA|date=November 2007|journal=Howard Hughes Medical Institute Bulletin|author=Steve Olson}}</ref> 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.<ref>DNA deletions and duplications help determine health. September 7th, 2007. Science.</ref> 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,<ref>Iafrate et al. Detection of large-scale variation in the human genome. 2004. Nature Genetics 36, 949-951. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&citation_for_view=NKTqN4IAAAAJ:z8nqeaKD1nsC Google Scholar citation]</ref> 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".<ref>Conversation. Two leading researchers discuss the value of oddball data. November 2009. An interview with Stephen Scherer and Roger Martin. Harvard Business Review.</ref>


'''Chromosome mapping'''  
⚫
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.<ref>Redon et al. Global variation in copy number in the human genome. 2006. Nature 444, 444-454. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&citation_for_view=NKTqN4IAAAAJ:X0DADzN9RKwC Google Scholar Citation]</ref><ref>Conrad et al. Origins and functional impact of copy number variation in the human genome. 2009. Nature 464, 704-12. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&citation_for_view=NKTqN4IAAAAJ:QVtou7C4vgoC Google Scholar citation]</ref> 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,<ref>Khaja et al. Genome assembly comparison to identify structural variants in the human genome. 2006. Nature Genetics 38, 1413-1418. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:orDZ08hpP44C Google Scholar citation]</ref> which contributed to the completion of the first genome sequence of an individual.<ref>Levy et al. The diploid genome sequence of an individual human. 2007. PLoS Biology 5, e254. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:nqdriD65xNoC Google Scholar citation]</ref>


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.<ref>Autism Genome Project, Szatmari et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. 2007. Nature Genetics 39, 319-328. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:Ic1VZgkJnDsC Google Scholar citation]</ref><ref>Marshall et al. Structural variation of chromosomes in autism spectrum disorder. 2008. American Journal of Human Genetics 82, 477-88. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:dAp6zn-oMfAC Google Scholar citation]</ref><ref>Pinto et al. Functional impact of global rare copy number variation in autism spectrum disorders. 2010. Nature 466, 368-372. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:naSTrk-c4S8C Google Scholar citation]</ref> These discoveries have led to broadly available tests facilitating early diagnostic information for autism.<ref>Berkel et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 2010. Nature Genetics 42, 489-91 [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:QoJ_w57xiyAC Google Scholar citation]</ref><ref>Noor et al. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 2010. Science Translational Medicine 2, 49ra68. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&cstart=100&pagesize=100&citation_for_view=NKTqN4IAAAAJ:cdwqcPQS8ssC Google Scholar citation]</ref><ref>Vaags et al. Rare deletions at the neurexin 3 locus in autism spectrum disorder. 2012. American Journal of Human Genetics 90, 133-141. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&cstart=200&pagesize=100&citation_for_view=NKTqN4IAAAAJ:TiIbgCYny7sC Google Scholar citation]</ref><ref>Sato et al. SHANK1 Deletions in Males with Autism Spectrum Disorder. 2012. American Journal of Human Genetics 90, 879-887. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&cstart=200&pagesize=100&citation_for_view=NKTqN4IAAAAJ:vofGIMt6cyEC Google Scholar citation]</ref><ref>Science City: Racing to solve the puzzle of autism. January 5th, 2008. Globe and Mail.</ref><ref>Canadian breakthrough offers hope on autism. February 19th, 2007. Globe and Mail</ref><ref>Solving puzzle of son's autism soothes family. January 18th, 2008. Toronto Star</ref><ref>Researchers discover genetic patterns of autism. June 9th, 2010. Time Magazine</ref><ref>Genetic finding paves way for controversial autism testing. June 10th, 2010. Globe and Mail</ref><ref>Autism genetics: A breakthrough that sheds light on a medical mystery. June 10th, 2010. The Independent</ref><ref>Understanding Autism. Spring 2011. University of Toronto Magazine</ref><ref>Special Series: Autism's new frontiers. February 17th, 2013. Ottawa Citizen</ref> 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.<ref>Canadian-led team delves deep into genetic code of autistic individuals. July 11th, 2013. Globe and Mail.</ref><ref>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. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&sortby=pubdate&citation_for_view=NKTqN4IAAAAJ:EsrhoZGmrkoC Google Scholar citation]</ref>
From 1988 to 2003 with [[Tsui Lap-chee|Lap-Chee Tsui]], Scherer led studies of human chromosome 7, in particular in the mapping phase of the Human Genome Project.<ref>The treasures of chromosome 7. Autumn 2001. The University of Toronto Magazine.  </ref><ref>Walking the jungles and deserts of chromosome 7. September 2003. Howard Hughes Medical Institute Bulletin. </ref><ref>Milestones in Canadian Health Research; Decoding life. 2010. Canadian Institutes of Health Research. </ref> Through collaborative research, genes involved in [[holoprosencephaly]],<ref>Belloni et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. 1996. Nature Genetics 14, 353-356. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:JWITY9-sCbMC Google Scholar citation]</ref><ref>Roessler et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. 1996. Nature Genetics 14, 357-360. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:pQTOvowfQioC Google Scholar citation]</ref> renal carcinoma,<ref>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. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:lYAcb2jw7qUC Google Scholar citation]</ref> Williams syndrome,<ref>Osborne et al. A 1.5 million base pair inversion polymorphism in families with Williams-Beuren syndrome. 2001. Nature Genetics 29, 321-325. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:m4fbC6XIj1kC Google Scholar citation]</ref><ref>Sommerville et al. Severe expressive-language delay related to duplication of the Williams-Beuren Locus. 2005. New England Journal of Medicine 353, 1694-1701. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:4Yq6kJLCcecC Google Scholar citation]</ref> sacral agenesis,<ref>Ross et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. 1998. Nature Genetics 20, 358-361. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:Tfl4UtY-dJUC Google Scholar citation]</ref> citrullinemia,<ref>Kobayashi et al. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. 1999. Nature Genetics 22, 159-163. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:eI34FqJmdUoC Google Scholar citation]</ref> renal tubular acidosis<ref>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. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:m92CDrhVnKEC Google Scholar citation]</ref> and many others were identified. His group also discovered the largest gene in the genome, which was later found to be involved in autism.<ref>Canadian scientists discover giant gene. February 10th, 2001. Globe and Mail.</ref> The sum of this work, including contributions from scientists worldwide and J. [[Craig Venter]]'s [[Celera Corporation|Celera Genomics]], generated the first published description of human chromosome 7.<ref>Scherer et al. Chromosome 7: DNA Sequence and Biology. 2003. Science 300, 767-772. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:1r-w4gtu6w8C Google Scholar citation]</ref> In other chromosome studies with Berge Minassian, disease genes causing deadly forms of epilepsy were identified.<ref>Minassian et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. 1998. Nature Genetics 20, 171-174. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:AZju0d2GQJ0C Google Scholar citation]</ref><ref>Chan et al. Mutations in NHLRC1 cause progressive myoclonus epilepsy. 2003. Nature Genetics 35, 125-127. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:PQEM9vzQD9gC Google Scholar citation]</ref><ref>Gene hunters race against Lafora curse. September 27th, 2003. National Post</ref>


'''Discovery of frequent gene copy number variation (CNV) events'''
Earlier (1988–2003) with [[Tsui Lap-chee|Lap-chee Tsui]], he led studies of human chromosome 7, in particular in the mapping phase of the Human Genome Project.<ref>The treasures of chromosome 7. Autumn 2001. The University of Toronto Magazine</ref><ref>Walking the jungles and deserts of chromosome 7. September 2003. Howard Hughes Medical Institute Bulletin</ref><ref>Milestones in Canadian Health Research; Decoding life. 2010. Canadian Institutes of Health Research</ref> Through collaborative research, genes causative in [[holoprosencephaly]],<ref>Belloni et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. 1996. Nature Genetics 14, 353-356. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:JWITY9-sCbMC Google Scholar citation]</ref><ref>Roessler et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. 1996. Nature Genetics 14, 357-360. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:pQTOvowfQioC Google Scholar citation]</ref> renal carcinoma,<ref>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. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:lYAcb2jw7qUC Google Scholar citation]</ref> Williams syndrome,<ref>Osborne et al. A 1.5 million base pair inversion polymorphism in families with Williams-Beuren syndrome. 2001. Nature Genetics 29, 321-325. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:m4fbC6XIj1kC Google Scholar citation]</ref><ref>Sommerville et al. Severe expressive-language delay related to duplication of the Williams-Beuren Locus. 2005. New England Journal of Medicine 353, 1694-1701. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:4Yq6kJLCcecC Google Scholar citation]</ref> sacral agenesis,<ref>Ross et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. 1998. Nature Genetics 20, 358-361. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:Tfl4UtY-dJUC Google Scholar citation]</ref> citrullinemia,<ref>Kobayashi et al. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. 1999. Nature Genetics 22, 159-163. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:eI34FqJmdUoC Google Scholar citation]</ref> renal tubular acidosis,<ref>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. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:m92CDrhVnKEC Google Scholar citation]</ref> and many others were identified. His group also discovered the largest gene in the genome, which was later found to be involved in autism.<ref>Canadian scientists discover giant gene. February 10th, 2001. Globe and Mail.</ref> The sum of this work including contributions from scientists worldwide and J. [[Craig Venter]]'s [[Celera Corporation|Celera Genomics]], generated the first published description of human chromosome 7.<ref>Scherer et al. Chromosome 7: DNA Sequence and Biology. 2003. Science 300, 767-772. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:1r-w4gtu6w8C Google Scholar citation]</ref> In other studies with Berge Minassian, disease genes causing deadly forms of epilepsy were identified.<ref>Minassian et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. 1998. Nature Genetics 20, 171-174. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:AZju0d2GQJ0C Google Scholar citation]</ref><ref>Chan et al. Mutations in NHLRC1 cause progressive myoclonus epilepsy. 2003. Nature Genetics 35, 125-127. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:PQEM9vzQD9gC Google Scholar citation]</ref><ref>Gene hunters race against Lafora curse. September 27th, 2003. National Post</ref>


⚫
Scherer's research contributed to the initial description of genome-wide copy number variations (CNVs) of genes, including defining CNV as a highly abundant form of human genetic variation.<ref>Iafrate et al. Detection of large-scale variation in the human genome. 2004. Nature Genetics 36, 949-51. [http://www.nature.com/ng/journal/v36/n9/full/ng1416.html]</ref> 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.<ref>Patchwork people. October 20th, 2005. Nature.</ref><ref>{{cite journal |author=Carolyn Abraham |date=November 23, 2006 |title=Study turns human genetics on its head |url=https://www.theglobeandmail.com/life/study-turns-human-genetics-on-its-head/article1110622/?page=all |journal=The Globe and Mail}}</ref><ref>{{cite journal |author=Steve Olson |date=November 2007 |title=The changing face of DNA |url=http://www.hhmi.org/sites/default/files/Bulletin/2007/November/nov2007_fulltext.pdf |journal=Howard Hughes Medical Institute Bulletin}}</ref> 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.<ref>DNA deletions and duplications help determine health. September 7th, 2007. Science.</ref> Scherer's observations of frequent CNV events found in the genomes of all cells in every individual, co-published with Canadian-Korean scientist [[Charles Lee (scientist)|Charles Lee]] working at Harvard in 2004,<ref>Nature. From the archives (2004): [https://blogs.nature.com/freeassociation/2017/04/from-the-archives-2004-large-scale-structural-variation-in-the-human-genome.html Large-scale structural variation in the human genome]. (27 April 2017). </ref> opened a new window for studies of natural genetic variation, evolution and disease. Scherer founded the ''Database of Genomic Variants'', a public database utilized by clinical laboratories around the world to interpret CNV and structural variation data in diagnostics.<ref>{{Cite web |title=Database of Genomic Variants |url=http://dgv.tcag.ca/dgv/app/home |website=Database of Genomic Variants: A curated catalogue of human genomic structural variation}}</ref> Scherer, Lee and collaborators led by [[Matthew Hurles]] at the Wellcome Trust Sanger Institute, as well as scientists at the University of Tokyo and Affymetrix Corp 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.<ref>Redon et al. Global variation in copy number in the human genome. 2006. Nature 444, 444-454. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&citation_for_view=NKTqN4IAAAAJ:X0DADzN9RKwC Google Scholar Citation]</ref><ref>Conrad et al. Origins and functional impact of copy number variation in the human genome. 2009. Nature 464, 704-12. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&citation_for_view=NKTqN4IAAAAJ:QVtou7C4vgoC Google Scholar citation]</ref> 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,<ref>Khaja et al. Genome assembly comparison to identify structural variants in the human genome. 2006. Nature Genetics 38, 1413-1418. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:orDZ08hpP44C Google Scholar citation]</ref> which contributed to the completion of the first genome sequence of an individual.<ref>Levy et al. The diploid genome sequence of an individual human. 2007. PLoS Biology 5, e254. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:nqdriD65xNoC Google Scholar citation]</ref>
In 2012, Scherer and colleagues launched the Personal Genome Project Canada.<ref>The Personal Genome Project: A brave new world for science and privacy. December 7th, 2012. Globe and Mail.</ref>


'''Autism-associated CNVs and genes'''
==Media==

Scherer appears regularly on the [[Canadian Broadcasting Corporation]] (CBC) and other national TV, radio, and media, including [[Quirks and Quarks]], explaining scientific discoveries.<ref>The human genome, and Pandora's box. Counterpoint: an interview with Margaret Wente. June 29th, 2000. Globe and Mail.</ref><ref>Scherer, SW. By knowing our genomes, we will begin to truly know ourselves. Commentary August 7th, 2007. Globe and Mail.</ref><ref>Scherer, SW. Perfect genomics. Question of the Year 2007. Nature Genetics.</ref><ref>Scherer, SW. 25 great ideas from great minds. January 4, 2007. Toronto Star.</ref><ref>Brainwashed. Rethinking man's genetic makeup. November 2010, The Walrus.</ref><ref>Scherer, SW. Genomics is the medium for 21st century biology. Editorial. 2012. Genome 55, v-vi.</ref> He was featured in [[Roger Martin (professor)|Roger Martin]]'s book ''The Design of Business''<ref>The reliability bias in The Design of Business. Roger Martin. Harvard Business Press.</ref> 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]].{{citation needed|date=June 2021}}
From 2003-2010, 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.<ref>Autism Genome Project, Szatmari et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. 2007. Nature Genetics 39, 319-328. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:Ic1VZgkJnDsC Google Scholar citation]</ref><ref>Marshall et al. Structural variation of chromosomes in autism spectrum disorder. 2008. American Journal of Human Genetics 82, 477-88. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:dAp6zn-oMfAC Google Scholar citation]</ref><ref>Pinto et al. Functional impact of global rare copy number variation in autism spectrum disorders. 2010. Nature 466, 368-372. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:naSTrk-c4S8C Google Scholar citation]</ref> These discoveries have led to broadly available tests facilitating early diagnostic information for autism.<ref>Berkel et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 2010. Nature Genetics 42, 489-91 [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:QoJ_w57xiyAC Google Scholar citation]</ref><ref>Noor et al. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. 2010. Science Translational Medicine 2, 49ra68. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&cstart=100&pagesize=100&citation_for_view=NKTqN4IAAAAJ:cdwqcPQS8ssC Google Scholar citation]</ref><ref>Vaags et al. Rare deletions at the neurexin 3 locus in autism spectrum disorder. 2012. American Journal of Human Genetics 90, 133-141. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&cstart=200&pagesize=100&citation_for_view=NKTqN4IAAAAJ:TiIbgCYny7sC Google Scholar citation]</ref><ref>Sato et al. SHANK1 Deletions in Males with Autism Spectrum Disorder. 2012. American Journal of Human Genetics 90, 879-887. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&cstart=200&pagesize=100&citation_for_view=NKTqN4IAAAAJ:vofGIMt6cyEC Google Scholar citation]</ref><ref>Science City: Racing to solve the puzzle of autism. January 5th, 2008. Globe and Mail.</ref><ref>Canadian breakthrough offers hope on autism. February 19th, 2007. Globe and Mail</ref><ref>Solving puzzle of son's autism soothes family. January 18th, 2008. Toronto Star</ref><ref>Researchers discover genetic patterns of autism. June 9th, 2010. Time Magazine</ref><ref>Genetic finding paves way for controversial autism testing. June 10th, 2010. Globe and Mail</ref><ref>Autism genetics: A breakthrough that sheds light on a medical mystery. June 10th, 2010. The Independent</ref><ref>Understanding Autism. Spring 2011. University of Toronto Magazine</ref><ref>Special Series: Autism's new frontiers. February 17th, 2013. Ottawa Citizen</ref>

Similar discoveries to those made in autism were also found in schizophrenia, intellectual disability and other brain disorders (with often the same genes/CNVs involved), thereby establishing a new paradigm to explain how complex human behavioral conditions can have a genetic (biological) basis. With Jacob Vorstman, Christian Schaaf and colleagues, Scherer developed the EAGLE (Evaluation of Autism Gene Link Evidence), which is a highly utilized resource in diagnostic testing for autism.<ref>{{Cite web |date=2021-12-10 |title=SFARI {{!}} SFARI Gene to introduce EAGLE, a new ASD-relevance gene scoring system |url=https://www.sfari.org/2021/12/10/sfari-gene-to-introduce-eagle-a-new-asd-relevance-gene-scoring-system/ |access-date=2023-12-27 |website=SFARI |language=en-US}}</ref>

'''Determining the genome architecture underlying autism'''

Scherer has led the [[Autism Speaks]] MSSNG project,<ref>{{Cite web |title=MSSNG |url=https://research.mss.ng/ |access-date=2023-12-27 |website=research.mss.ng}}</ref> which uses whole genome sequencing to decode the DNA of thousands of families having a diagnosis of autism. The research underpinned the identification of >100 genes and CNVs involved in autism providing explanations of why autism has occurred for approximately 5-20% of families.<ref>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. [https://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&sortby=pubdate&citation_for_view=NKTqN4IAAAAJ:EsrhoZGmrkoC Google Scholar citation]</ref><ref>{{Cite journal |last=Pinto |first=Dalila |last2=Delaby |first2=Elsa |last3=Merico |first3=Daniele |last4=Barbosa |first4=Mafalda |last5=Merikangas |first5=Alison |last6=Klei |first6=Lambertus |last7=Thiruvahindrapuram |first7=Bhooma |last8=Xu |first8=Xiao |last9=Ziman |first9=Robert |last10=Wang |first10=Zhuozhi |last11=Vorstman |first11=Jacob A. S. |last12=Thompson |first12=Ann |last13=Regan |first13=Regina |last14=Pilorge |first14=Marion |last15=Pellecchia |first15=Giovanna |date=2014-05-01 |title=Convergence of genes and cellular pathways dysregulated in autism spectrum disorders |url=https://pubmed.ncbi.nlm.nih.gov/24768552/ |journal=American Journal of Human Genetics |volume=94 |issue=5 |pages=677–694 |doi=10.1016/j.ajhg.2014.03.018 |issn=1537-6605 |pmc=4067558 |pmid=24768552}}</ref><ref>{{Cite journal |last=Uddin |first=Mohammed |last2=Tammimies |first2=Kristiina |last3=Pellecchia |first3=Giovanna |last4=Alipanahi |first4=Babak |last5=Hu |first5=Pingzhao |last6=Wang |first6=Zhuozhi |last7=Pinto |first7=Dalila |last8=Lau |first8=Lynette |last9=Nalpathamkalam |first9=Thomas |last10=Marshall |first10=Christian R. |last11=Blencowe |first11=Benjamin J. |last12=Frey |first12=Brendan J. |last13=Merico |first13=Daniele |last14=Yuen |first14=Ryan K. C. |last15=Scherer |first15=Stephen W. |title=Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder |url=https://pubmed.ncbi.nlm.nih.gov/24859339/ |journal=Nature Genetics |volume=46 |issue=7 |pages=742–747 |doi=10.1038/ng.2980 |issn=1546-1718 |pmid=24859339 |via=PubMed}}</ref><ref>{{Cite journal |last=Tammimies |first=Kristiina |last2=Marshall |first2=Christian R. |last3=Walker |first3=Susan |last4=Kaur |first4=Gaganjot |last5=Thiruvahindrapuram |first5=Bhooma |last6=Lionel |first6=Anath C. |last7=Yuen |first7=Ryan K. C. |last8=Uddin |first8=Mohammed |last9=Roberts |first9=Wendy |last10=Weksberg |first10=Rosanna |last11=Woodbury-Smith |first11=Marc |last12=Zwaigenbaum |first12=Lonnie |last13=Anagnostou |first13=Evdokia |last14=Wang |first14=Zhuozhi |last15=Wei |first15=John |date=2015-09-01 |title=Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder |url=https://pubmed.ncbi.nlm.nih.gov/26325558/ |journal=JAMA |volume=314 |issue=9 |pages=895–903 |doi=10.1001/jama.2015.10078 |issn=1538-3598 |pmid=26325558}}</ref><ref>{{Cite journal |last=Yuen |first=Ryan K. C. |last2=Thiruvahindrapuram |first2=Bhooma |last3=Merico |first3=Daniele |last4=Walker |first4=Susan |last5=Tammimies |first5=Kristiina |last6=Hoang |first6=Ny |last7=Chrysler |first7=Christina |last8=Nalpathamkalam |first8=Thomas |last9=Pellecchia |first9=Giovanna |last10=Liu |first10=Yi |last11=Gazzellone |first11=Matthew J. |last12=D'Abate |first12=Lia |last13=Deneault |first13=Eric |last14=Howe |first14=Jennifer L. |last15=Liu |first15=Richard S. C. |title=Whole-genome sequencing of quartet families with autism spectrum disorder |url=https://pubmed.ncbi.nlm.nih.gov/25621899/ |journal=Nature Medicine |issue=2 |doi=10.1038/nm.3792 |issn=1546-170X |pmid=25621899 |via=PubMed}}</ref><ref>{{Cite journal |last=C Yuen |first=Ryan K. |last2=Merico |first2=Daniele |last3=Bookman |first3=Matt |last4=L Howe |first4=Jennifer |last5=Thiruvahindrapuram |first5=Bhooma |last6=Patel |first6=Rohan V. |last7=Whitney |first7=Joe |last8=Deflaux |first8=Nicole |last9=Bingham |first9=Jonathan |last10=Wang |first10=Zhuozhi |last11=Pellecchia |first11=Giovanna |last12=Buchanan |first12=Janet A. |last13=Walker |first13=Susan |last14=Marshall |first14=Christian R. |last15=Uddin |first15=Mohammed |title=Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder |url=https://pubmed.ncbi.nlm.nih.gov/28263302/ |journal=Nature Neuroscience |volume=20 |issue=4 |pages=602–611 |doi=10.1038/nn.4524 |issn=1546-1726 |pmc=5501701 |pmid=28263302}}</ref><ref>{{Cite journal |last=Trost |first=Brett |last2=Engchuan |first2=Worrawat |last3=Nguyen |first3=Charlotte M. |last4=Thiruvahindrapuram |first4=Bhooma |last5=Dolzhenko |first5=Egor |last6=Backstrom |first6=Ian |last7=Mirceta |first7=Mila |last8=Mojarad |first8=Bahareh A. |last9=Yin |first9=Yue |last10=Dov |first10=Alona |last11=Chandrakumar |first11=Induja |last12=Prasolava |first12=Tanya |last13=Shum |first13=Natalie |last14=Hamdan |first14=Omar |last15=Pellecchia |first15=Giovanna |title=Genome-wide detection of tandem DNA repeats that are expanded in autism |url=https://pubmed.ncbi.nlm.nih.gov/32717741/ |journal=Nature |volume=586 |issue=7827 |pages=80–86 |doi=10.1038/s41586-020-2579-z |issn=1476-4687 |pmc=9348607 |pmid=32717741}}</ref> These discoveries have enabled faster and more precise diagnoses, early intervention and genetic counselling and have led to the identification of new molecular pathways for the development of therapeutics.<ref>{{Cite journal |last=Cook |first=Edwin H. |last2=Scherer |first2=Stephen W. |date=2008-10-16 |title=Copy-number variations associated with neuropsychiatric conditions |url=https://pubmed.ncbi.nlm.nih.gov/18923514/ |journal=Nature |volume=455 |issue=7215 |pages=919–923 |doi=10.1038/nature07458 |issn=1476-4687 |pmid=18923514}}</ref><ref>{{Cite journal |last=Marshall |first=Christian R. |last2=Scherer |first2=Stephen W. |date=2012 |title=Detection and characterization of copy number variation in autism spectrum disorder |url=https://pubmed.ncbi.nlm.nih.gov/22228009/ |journal=Methods in Molecular Biology (Clifton, N.J.) |volume=838 |pages=115–135 |doi=10.1007/978-1-61779-507-7_5 |issn=1940-6029 |pmid=22228009}}</ref><ref>{{Cite journal |last=Anagnostou |first=Evdokia |last2=Zwaigenbaum |first2=Lonnie |last3=Szatmari |first3=Peter |last4=Fombonne |first4=Eric |last5=Fernandez |first5=Bridget A. |last6=Woodbury-Smith |first6=Marc |last7=Brian |first7=Jessica |last8=Bryson |first8=Susan |last9=Smith |first9=Isabel M. |last10=Drmic |first10=Irene |last11=Buchanan |first11=Janet A. |last12=Roberts |first12=Wendy |last13=Scherer |first13=Stephen W. |title=Autism spectrum disorder: advances in evidence-based practice |url=https://pubmed.ncbi.nlm.nih.gov/24418986/ |journal=Canadian Medical Association Journal |volume=186 |issue=7 |pages=509–519 |doi=10.1503/cmaj.121756 |issn=1488-2329 |pmc=3986314 |pmid=24418986}}</ref><ref>{{Cite journal |last=Vorstman |first=Jacob |last2=Scherer |first2=Stephen W. |title=What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders |url=https://pubmed.ncbi.nlm.nih.gov/33454514/ |journal=Current Opinion in Genetics & Development |volume=68 |pages=18–25 |doi=10.1016/j.gde.2020.12.017 |issn=1879-0380 |pmid=33454514}}</ref> In 2022, Scherer’s team published a comprehensive description of the genomic architecture in autism using the largest collection of whole genome sequencing data available to facilitate research studies in autism.<ref>{{Cite journal |last=Trost |first=Brett |last2=Thiruvahindrapuram |first2=Bhooma |last3=Chan |first3=Ada J. S. |last4=Engchuan |first4=Worrawat |last5=Higginbotham |first5=Edward J. |last6=Howe |first6=Jennifer L. |last7=Loureiro |first7=Livia O. |last8=Reuter |first8=Miriam S. |last9=Roshandel |first9=Delnaz |last10=Whitney |first10=Joe |last11=Zarrei |first11=Mehdi |last12=Bookman |first12=Matthew |last13=Somerville |first13=Cherith |last14=Shaath |first14=Rulan |last15=Abdi |first15=Mona |date=2022-11-10 |title=Genomic architecture of autism from comprehensive whole-genome sequence annotation |url=https://pubmed.ncbi.nlm.nih.gov/36368308/ |journal=Cell |volume=185 |issue=23 |pages=4409–4427.e18 |doi=10.1016/j.cell.2022.10.009 |issn=1097-4172 |pmid=36368308}}</ref>

'''Genome science, data and public policy infrastructure'''

Scherer co-founded the [[Centre for Applied Genomics|TCAG genome centre at SickKids]] in 1998. In 2015 with Marco Marra and Steven Jones at the University of British Columbia and Mark Lathrop at McGill University, the three major Canadian genome centres came together as CGEn, which serves as a Major Science Initiative of the Canada Foundation of Innovation.<ref>{{Cite web |last=Warner |first=Hillete |date=2022-08-19 |title=CGEn receives $48.9 million in federal funding through the Canada Foundation for Innovation's Major Science Initiatives Fund |url=https://www.cgen.ca/cgen-receives-48-9-million-in-federal-funding-through-the-canada-foundation-for-innovations-major-science-initiatives-fund%EF%BF%BC |website=Canada's national platform for genome sequencing & analysis}}</ref> For the 150<sup>th</sup> anniversary of Canada (2017), he started the CanSeq150 Project to sequence 150 genomes of species most relevant to Canada’s culture/environment/conservation; notable species completed include many of the ''“canadensis”'' members such as the Canadian beaver and Canadian wolverine.<ref>{{Cite web |title=CanSeq150 |url=https://www.cgen.ca/canseq150-overview |access-date=2023-12-27 |website=Canada's national platform for genome sequencing & analysis |language=en-US}}</ref><ref>{{Citation |title=SickKids researchers sequence genome of the Canadian beaver |url=https://www.youtube.com/watch?v=UZ8wmutLRGY |access-date=2023-12-27 |language=en}}</ref><ref>{{Cite news |date=2017-01-13 |title=Scientists map genome of beaver as gift for Canada’s 150th birthday |language=en-CA |work=The Globe and Mail |url=https://www.theglobeandmail.com/news/national/scientists-map-genome-of-beaver-as-gift-for-canadas-150th-birthday/article33617869/ |access-date=2023-12-27}}</ref> Canseq 150 is now part of the Canadian Biogenome Project, an international effort aiming to sequence the genetic material for all complex life on earth.<ref>{{Cite web |title=Canada BioGenome Project |url=https://www.cgen.ca/biogenome-project |access-date=2023-12-27 |website=Canada's national platform for genome sequencing & analysis |language=en-US}}</ref> CGEn also led the Covid-19 host genome sequencing project, which completed 10,000 Canadian genomes in April 2022.<ref>{{Cite web |title=Program Overview |url=https://www.cgen.ca/project-overview |access-date=2023-12-27 |website=Canada's national platform for genome sequencing & analysis |language=en-US}}</ref>

Scherer and colleagues launched the Personal Genome Project Canada in 2007, a resource of data that supports evaluation of whole genome sequencing in medicine and public health.<ref>{{Cite journal |last=Reuter |first=Miriam S. |last2=Walker |first2=Susan |last3=Thiruvahindrapuram |first3=Bhooma |last4=Whitney |first4=Joe |last5=Cohn |first5=Iris |last6=Sondheimer |first6=Neal |last7=Yuen |first7=Ryan K. C. |last8=Trost |first8=Brett |last9=Paton |first9=Tara A. |last10=Pereira |first10=Sergio L. |last11=Herbrick |first11=Jo-Anne |last12=Wintle |first12=Richard F. |last13=Merico |first13=Daniele |last14=Howe |first14=Jennifer |last15=MacDonald |first15=Jeffrey R. |date=2018-02-05 |title=The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants |url=https://www.cmaj.ca/content/190/5/E126 |journal=Canadian Medical Association Journal |volume=190 |issue=5 |pages=E126–E136 |doi=10.1503/cmaj.171151 |issn=0820-3946 |pmid=29431110}}</ref><ref>{{Cite news |date=2018-02-03 |title=Cracks in the code: Why mapping your DNA may be less reliable than you think |language=en-CA |work=The Globe and Mail |url=https://www.theglobeandmail.com/technology/science/genetic-testing/article37829424/ |access-date=2023-12-27}}</ref> These experiences along Scherer’s advocacy with the Canadian Coalition for Genetic Fairness helped to establish Canada’s Genetic Non-Discrimination Act,<ref>{{Cite web |last=Branch |first=Legislative Services |date=2017-05-04 |title=Consolidated federal laws of canada, Genetic Non-Discrimination Act |url=https://laws-lois.justice.gc.ca/eng/acts/G-2.5/index.html |access-date=2023-12-27 |website=laws-lois.justice.gc.ca}}</ref> which passed into law on May 4, 2017.

==Media and special presentations==
Scherer’s discoveries have appeared in the [[The Globe and Mail|Globe and Mail]], [[The New York Times|New York Times]], [[The Washington Post|Washington Post]], [[Playboy]], [[The Independent]], [[Time (magazine)|Time]], [[Newsweek]], [[Scientific American]] and many other periodicals. He has appeared on the [[Canadian Broadcasting Corporation]] (CBC), [[PBS NewsHour|PBS Newshour]], [[TVO]] Agenda, and other national TV, radio, and media, including [[Quirks and Quarks]], explaining scientific discoveries.<ref>{{Citation |title=CBC Autism Research Story January 26 2015 |url=https://www.youtube.com/watch?v=QjXrnhMwKjc |access-date=2023-12-27 |language=en}}</ref><ref>{{Cite web |date=2015-10-21 |title=This search engine could help unlock autism’s secrets |url=https://www.pbs.org/newshour/show/autism |access-date=2023-12-27 |website=PBS NewsHour |language=en-us}}</ref><ref>{{Citation |title=Stephen Scherer: DNA Testing for Autism |url=https://www.youtube.com/watch?v=tbUFMf2hHKU |access-date=2023-12-27 |language=en}}</ref><ref>The human genome, and Pandora's box. Counterpoint: an interview with Margaret Wente. June 29th, 2000. Globe and Mail.</ref><ref>Scherer, SW. By knowing our genomes, we will begin to truly know ourselves. Commentary August 7th, 2007. Globe and Mail.</ref><ref>Scherer, SW. Perfect genomics. Question of the Year 2007. Nature Genetics.</ref><ref>Scherer, SW. 25 great ideas from great minds. January 4, 2007. Toronto Star.</ref><ref>Brainwashed. Rethinking man's genetic makeup. November 2010, The Walrus.</ref><ref>Scherer, SW. Genomics is the medium for 21st century biology. Editorial. 2012. Genome 55, v-vi.</ref> His research was featured in [[Roger Martin (professor)|Roger Martin]]'s book ''The Design of Business,''<ref>Martin, Roger (2009). ''The Reliability Bias: Why Advancing Knowledge Is So Hard--How Making Room for Validity Will Help You Design a Business That Is Better at Innovation''. Harvard Business Publishing. </ref> [[Bob Wright|Bob Wright’s]] autobiography the ''Wright Stuff: from NBC to Autism Speaks,''<ref>{{Cite book |last=Wright |first=Bob |title=The Wright Stuff: From NBC to Autism Speaks |publisher=RosettaBooks |year=2016 |isbn=978-0795346927}}</ref> [[Steve Silberman]]’s NeuroTribes: The Legacy of Autism and the Future of Neurodiversity,<ref>{{Cite book |last=Silberman |first=Steve |title=Neurotribes: The Legacy of Autism and the Future of Neurodiversity |publisher=Avery |isbn=978-0399185618 |edition=2nd}}</ref> amongst others. In 2013, he spoke at the Canadian Broadcast Glenn Gould Studio: ‘Cracking the Autism Enigma’,<ref>{{Citation |title=Part 1. OBI/CIFAR Public Lecture on Autism, Presented by Autism Speaks |url=https://www.youtube.com/watch?v=hlLfuy_auXs |access-date=2023-12-27 |language=en}}</ref> and in 2015 was a special guest speaker at the United Nations, New York for World Autism Awareness Day.<ref>{{Cite web |title=World Autism Awareness Day, 2 April |url=https://www.un.org/en/events/autismday/events2015.shtml |access-date=2023-12-27 |website=www.un.org |language=en}}</ref> He has been featured the Genome Giants series of interviews.<ref>{{Cite web |last=Genomics |first=Front Line |last2=Gunn |first2=Shannon |date=2022-02-22 |title=Genome Giants: Stephen Scherer, Director, The Centre for Applied Genomics, SickKids |url=https://frontlinegenomics.com/genome-giants-stephen-scherer-director-the-centre-for-applied-genomics-sickkids/ |access-date=2023-12-27 |website=Front Line Genomics |language=en}}</ref> He served as the scientific consultant for two documentaries, the MediCinema Film creation ''Cracking the Code, the continuing saga of genetics'',<ref>{{Cite web |title=MediCinema - Creative classroom videos & DVDs - CRACKING THE CODE: The Continuing Saga of Genetics |url=http://www.medicinema.com/genetics.html |access-date=2023-12-27 |website=www.medicinema.com}}</ref> and the [[Gemini Award]]-winning documentary, ''After Darwin'' by GalaFilms-[[Telefilm Canada]].<ref>{{Citation |title=After Darwin (1999) {{!}} Full Movie {{!}} Lewis Wolpert {{!}} Benno Muller-Hill {{!}} Troy Duster {{!}} Andrea Shugar |url=https://www.youtube.com/watch?v=wYppdhSbNqg |access-date=2023-12-27 |language=en}}</ref> He also hosts the SickKids Discovery Dialogues which takes attendees behind the scenes of research to discuss their research and the path to scientific discovery.<ref>{{Cite web |title=SickKids Discovery Dialogues - YouTube |url=https://www.youtube.com/playlist?list=PLfAK35c0XomtCrHDR1wcaLU2_MXLHGtuY |access-date=2023-12-27 |website=www.youtube.com}}</ref>


==Honours==
==Honours==
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 (2003),<ref>{{cite web |url=https://www.steacieprize.ca/recipients_e.html|title=The Steacie Prize - Recipients|access-date=August 2, 2019}}</ref> 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). In 2019, he was awarded a [[Killam Prize]].<ref>{{cite web|url=https://www.utoronto.ca/news/u-t-researchers-awarded-killam-prizes-contributions-humanities-health-sciences|title=U of T researchers awarded Killam Prizes for contributions to humanities, health sciences|author=|date=|website=University of Toronto News|access-date=April 27, 2019}}</ref>


* Canada's Top 40 under 40 Award (1999)<ref>{{Cite web |title=Canada's Top 40 Under 40 - Honourees 1999 |url=https://canadastop40under40.com/honourees-1999.html |access-date=2023-12-27 |website=canadastop40under40.com}}</ref>
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|date=September 2013}} Recently he was also recognized as a [[Notable Sigma Chi Alumni|Significant Sigma Chi]] (2011),<ref>{{cite web|url=http://www.sigmachi.org/significant-sigs|title=Significant Sigs|author=|date=April 9, 2012|website=Sigma Chi Fraternity|access-date=April 27, 2019}}</ref> became a Distinguished High Impact Professor of the King Abdulaziz University,{{citation needed|date=June 2021}} and was awarded the Queen Elizabeth II Diamond Jubilee Medal for unique contributions to Canada (2013).{{citation needed|date=June 2021}}
* Scholar of the [[Howard Hughes Medical Institute]] (2002)<ref>{{Cite web |title=HHMI Awards Canadian, Latin American Research Grants {{!}} HHMI |url=https://www.hhmi.org/news/hhmi-awards-canadian-latin-american-research-grants |access-date=2023-12-27 |website=www.hhmi.org |language=en}}</ref>
* Genetics Society of Canada Scientist Award (2002)
* [[Canadian Institute for Advanced Research]] Explorer Award (2002)<ref>{{Cite web |title=Stephen W. Scherer |url=https://cifar.ca/bios/stephen-w-scherer/ |access-date=2023-12-27 |website=CIFAR |language=en-US}}</ref>
* [[Steacie Prize]] in the Natural Sciences (2003)<ref>{{Cite web |title=Recipients – Steacie Prize for Natural Sciences |url=https://steacieprize.ca/recipients/ |access-date=2023-12-27 |website=steacieprize.ca}}</ref>
* Fellow of the [[Royal Society of Canada]] (2007)<ref>{{Cite web |title=Member Directory |url=https://rsc-src.ca/en/find-rsc-member/results |access-date=2023-12-27 |website=The Royal Society of Canada |language=en}}</ref>
* Inaugural Distinguished Science Alumni Award-[[University of Waterloo]] (2007)<ref>{{Cite web |title=Science Alumni of Honour Award: 50th Anniversary {{!}} Science |url=https://uwaterloo.ca/science/alumni-and-friends/science-alumni-awards/50-anniversary-science-alumni-honour-award |access-date=2023-12-27 |website=uwaterloo.ca |language=en}}</ref>
* Premier’s Summit Award for Medical Research (2008)<ref>{{Cite web |title=Ontario Newsroom |url=https://news.ontario.ca/en/backgrounder/672/premiers-summit-award-in-medical-research |access-date=2023-12-27 |website=news.ontario.ca}}</ref>
* Fellow of the [[American Association for the Advancement of Science]] (AAAS) (2011)<ref>{{Cite web |title=AAAS Members Elected as Fellows (2011) |url=https://www.aaas.org/news/aaas-members-elected-fellows-2 |website=AAAS}}</ref>
* International [[Notable Sigma Chi Alumni|Significant Sigma Chi]] Award (2011)<ref>{{Cite web |title=Distinguished Brothers |url=https://sigmachi.ca/distinguished-sigma-chi-brothers/ |access-date=2023-12-27 |website=Sigma Chi Canadian Foundation |language=en-US}}</ref>
* [[Queen Elizabeth II Diamond Jubilee Medal]] for unique contributions to Canada (2013)<ref>{{Cite web |title=Stephen Scherer |url=https://www.gg.ca/en/honours/recipients/126-268714 |access-date=2023-12-27 |website=The Governor General of Canada |language=en}}</ref>
* [[Clarivate]] (previously [[Thomson Reuters|Thomson-Reuters]]) Citation Laureate in Physiology or Medicine (2014) (2020)<ref>{{Cite web |last=Ubelacke |first=Sheryl |date=September 25, 2014 |title=Stephen Scherer of Toronto's Sick Kids Hospital pegged to win Nobel Prize |url=https://www.cbc.ca/news/health/stephen-scherer-of-toronto-s-sick-kids-hospital-pegged-to-win-nobel-prize-1.2777560 |website=CBC News}}</ref><ref>{{Cite web |date=2020-10-07 |title=Stephen W. Scherer |url=https://clarivate.com/webofsciencegroup/citation-laureates/resources/stephen-w-scherer/ |access-date=2023-12-27 |website=Web of Science Group |language=en}}</ref><ref>{{Cite news |date=2014-09-24 |title=Toronto Sick Kids geneticist named potential Nobel Prize recipient |language=en-CA |work=The Globe and Mail |url=https://www.theglobeandmail.com/technology/science/toronto-sick-kids-geneticist-on-track-for-nobel-prize/article20780467/ |access-date=2023-12-27}}</ref>
* [[Maclean's]] Magazine 50 Most Important People in Canada (2014)<ref>{{Cite web |last=Maclean's |date=2014-11-22 |title=The Maclean's Power List: The 50 most important people in Canada |url=https://macleans.ca/news/canada/the-macleans-power-list-the-50-most-important-people-in-canada/ |access-date=2023-12-27 |website=Macleans.ca |language=en-US}}</ref>
* [[Killam Prize]] in Health Sciences (2019)<ref>{{Cite web |title=U of T researchers awarded Killam Prizes for contributions to humanities, health sciences {{!}} University of Toronto |url=https://www.utoronto.ca/news/u-t-researchers-awarded-killam-prizes-contributions-humanities-health-sciences |access-date=2023-12-27 |website=www.utoronto.ca |language=en}}</ref>
* Distinguished Fellow of the International Society for Autism Research (2021)<ref>{{Cite web |title=INSAR Fellows - International Society for Autism Research (INSAR) |url=https://www.autism-insar.org/page/Fellows?&hhsearchterms=%22stephen+and+scherer%22 |access-date=2023-12-27 |website=www.autism-insar.org}}</ref>
* Northbridge Chair in Paediatric Research at SickKids and the University of Toronto<ref>{{Cite web |title=Scientific & Academic Chairs |url=https://www.sickkids.ca/en/research/scientific-academic-chairs/ |access-date=2023-12-27 |website=SickKids |language=en}}</ref>
* GlaxoSmithKline-CIHR Endowed Chair in Genetics and Genomics from SickKids and the University of Toronto<ref>{{Cite web |last=Government of Canada |first=Canadian Institutes of Health Research |date=2015-11-30 |title=Just an Ordinary Superstar - CIHR |url=https://cihr-irsc.gc.ca/e/49529.html |access-date=2023-12-27 |website=cihr-irsc.gc.ca}}</ref>

Scherer holds three Honorary Doctorates from the [[University of Windsor]] (2001), the [[University of Waterloo]] (2017) and [[Western University (Canada)|Western University]] (2018).<ref>{{Cite web |title=University of Windsor Honorary Degrees Conferred |url=https://www.uwindsor.ca/secretariat/sites/uwindsor.ca.secretariat/files/honorary_degree_by_convocation_august_8_2022.pdf |website=University of Windsor}}</ref><ref>{{Cite web |title=Alumni Profile: Stephen W. Scherer {{!}} Science |url=https://uwaterloo.ca/science/alumni-and-friends/alumni-profile-stephen-w-scherer |access-date=2023-12-27 |website=uwaterloo.ca |language=en}}</ref><ref>{{Cite web |last=University |first=Department of Communications and Public Affairs, Western |date=2018-04-10 |title=Western to honour global science, business, entertainment and sport leaders at 311th Convocation |url=https://mediarelations.uwo.ca/2018/04/10/western-honour-global-science-business-entertainment-sport-leaders-311th-convocation/ |access-date=2023-12-27 |website=Media Relations |language=en-US}}</ref><ref>{{Citation |title=Western Convocation - June 14, 2018 - Stephen Scherer |url=https://www.youtube.com/watch?v=JfQxPAbsniI |access-date=2023-12-27 |language=en}}</ref>


==References==
==References==

Revision as of 21:25, 27 December 2023

Stephen W. Scherer
Born
Stephen Wayne Scherer

(1964-01-05) January 5, 1964 (age 60)
Windsor, Ontario, Canada
NationalityCanadian
Alma materUniversity of Waterloo (B.Sc.)
University of Toronto (M.Sc., Ph.D.)
Spouse
Jo-Anne Herbrick
​
(m. 2002)​
Children2
Scientific career
Doctoral advisorTsui Lap-chee

Stephen Wayne "Steve" Scherer (born January 5, 1964) is a Canadian scientist who currently serves as the Chief of Research at The Hospital for Sick Children (SickKids) and distinguished University Professor at the University of Toronto.[1] 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). He is a Senior Fellow of Massey College at the University of Toronto.[2] In 2014, he was named an esteemed Clarivate (previously Thomson Reuters) Citation laureate in Physiology or Medicine for the “Discovery of large-scale gene copy number variation and its association with specific diseases.”[3]

Background

Scherer was born in Windsor, Ontario and attended Riverside High School. He played competitive hockey and baseball winning provincial and national championships.[4] 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.[5]

He married Jo-Anne Herbrick on February 2, 2002 and they have two children, Josef Scherer and Julianna Scherer.

Research

Scherer has co-published over 700 scholarly papers and book chapters.[6] He has been on the Thomson Reuters Highly Cited Researcher and World’s Most Influential Scientific Minds list (2015-2018).[7][8] His Google Scholar h-index=156; 123,046 citations.[9] In 2023, with Ronald D. Cohn and Ada Hamosh, he edited Thompson & Thompson Genetics and Genomics in Medicine, 9th Edition, Elsevier Publishers.[10]

Chromosome mapping  

From 1988 to 2003 with Lap-Chee Tsui, Scherer led studies of human chromosome 7, in particular in the mapping phase of the Human Genome Project.[11][12][13] Through collaborative research, genes involved in holoprosencephaly,[14][15] renal carcinoma,[16] Williams syndrome,[17][18] sacral agenesis,[19] citrullinemia,[20] renal tubular acidosis[21] and many others were identified. His group also discovered the largest gene in the genome, which was later found to be involved in autism.[22] 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.[23] In other chromosome studies with Berge Minassian, disease genes causing deadly forms of epilepsy were identified.[24][25][26]

Discovery of frequent gene copy number variation (CNV) events

Scherer's research contributed to the initial description of genome-wide copy number variations (CNVs) of genes, including defining CNV as a highly abundant form of human genetic variation.[27] 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.[28][29][30] 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.[31] Scherer's observations of frequent CNV events found in the genomes of all cells in every individual, co-published with Canadian-Korean scientist Charles Lee working at Harvard in 2004,[32] opened a new window for studies of natural genetic variation, evolution and disease. Scherer founded the Database of Genomic Variants, a public database utilized by clinical laboratories around the world to interpret CNV and structural variation data in diagnostics.[33] Scherer, Lee and collaborators led by Matthew Hurles at the Wellcome Trust Sanger Institute, as well as scientists at the University of Tokyo and Affymetrix Corp 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.[34][35] 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,[36] which contributed to the completion of the first genome sequence of an individual.[37]

Autism-associated CNVs and genes

From 2003-2010, 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.[38][39][40] These discoveries have led to broadly available tests facilitating early diagnostic information for autism.[41][42][43][44][45][46][47][48][49][50][51][52]

Similar discoveries to those made in autism were also found in schizophrenia, intellectual disability and other brain disorders (with often the same genes/CNVs involved), thereby establishing a new paradigm to explain how complex human behavioral conditions can have a genetic (biological) basis. With Jacob Vorstman, Christian Schaaf and colleagues, Scherer developed the EAGLE (Evaluation of Autism Gene Link Evidence), which is a highly utilized resource in diagnostic testing for autism.[53]

Determining the genome architecture underlying autism

Scherer has led the Autism Speaks MSSNG project,[54] which uses whole genome sequencing to decode the DNA of thousands of families having a diagnosis of autism. The research underpinned the identification of >100 genes and CNVs involved in autism providing explanations of why autism has occurred for approximately 5-20% of families.[55][56][57][58][59][60][61] These discoveries have enabled faster and more precise diagnoses, early intervention and genetic counselling and have led to the identification of new molecular pathways for the development of therapeutics.[62][63][64][65] In 2022, Scherer’s team published a comprehensive description of the genomic architecture in autism using the largest collection of whole genome sequencing data available to facilitate research studies in autism.[66]

Genome science, data and public policy infrastructure

Scherer co-founded the TCAG genome centre at SickKids in 1998. In 2015 with Marco Marra and Steven Jones at the University of British Columbia and Mark Lathrop at McGill University, the three major Canadian genome centres came together as CGEn, which serves as a Major Science Initiative of the Canada Foundation of Innovation.[67] For the 150th anniversary of Canada (2017), he started the CanSeq150 Project to sequence 150 genomes of species most relevant to Canada’s culture/environment/conservation; notable species completed include many of the “canadensis” members such as the Canadian beaver and Canadian wolverine.[68][69][70] Canseq 150 is now part of the Canadian Biogenome Project, an international effort aiming to sequence the genetic material for all complex life on earth.[71] CGEn also led the Covid-19 host genome sequencing project, which completed 10,000 Canadian genomes in April 2022.[72]

Scherer and colleagues launched the Personal Genome Project Canada in 2007, a resource of data that supports evaluation of whole genome sequencing in medicine and public health.[73][74] These experiences along Scherer’s advocacy with the Canadian Coalition for Genetic Fairness helped to establish Canada’s Genetic Non-Discrimination Act,[75] which passed into law on May 4, 2017.

Media and special presentations

Scherer’s discoveries have appeared in the Globe and Mail, New York Times, Washington Post, Playboy, The Independent, Time, Newsweek, Scientific American and many other periodicals. He has appeared on the Canadian Broadcasting Corporation (CBC), PBS Newshour, TVO Agenda, and other national TV, radio, and media, including Quirks and Quarks, explaining scientific discoveries.[76][77][78][79][80][81][82][83][84] His research was featured in Roger Martin's book The Design of Business,[85] Bob Wright’s autobiography the Wright Stuff: from NBC to Autism Speaks,[86] Steve Silberman’s NeuroTribes: The Legacy of Autism and the Future of Neurodiversity,[87] amongst others. In 2013, he spoke at the Canadian Broadcast Glenn Gould Studio: ‘Cracking the Autism Enigma’,[88] and in 2015 was a special guest speaker at the United Nations, New York for World Autism Awareness Day.[89] He has been featured the Genome Giants series of interviews.[90] He served as the scientific consultant for two documentaries, the MediCinema Film creation Cracking the Code, the continuing saga of genetics,[91] and the Gemini Award-winning documentary, After Darwin by GalaFilms-Telefilm Canada.[92] He also hosts the SickKids Discovery Dialogues which takes attendees behind the scenes of research to discuss their research and the path to scientific discovery.[93]

Honours

Scherer holds three Honorary Doctorates from the University of Windsor (2001), the University of Waterloo (2017) and Western University (2018).[112][113][114][115]

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