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'''Stephen Wayne {{`}}Steve{{`}} Scherer''', PhD, DSc, FRSC, is a Canadian scientist, whose research has revolutionized the understanding of genetic variation in human disease. He obtained his PhD at the [[University of Toronto]] under Professor [[Tsui Lap-chee|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 [http://www.mclaughlin.utoronto.ca/home.htm McLaughlin Centre], a $100M initiative in genomic medicine at the [[University of Toronto Faculty of Medicine]]. His group has made several discoveries, documented in 350 publications and patents cited more than [http://scholar.google.ca/citations?user=NKTqN4IAAAAJ&hl=en&oi=ao 30,000 times], positioning him as one of the [http://www.researcherid.com/rid/B-3785-2013 most prolific scientists] of his generation.<ref>Geneticist honoured. Discovery of epilepsy gene puts researcher in elite group. May 10th, 2000. Windsor Star.</ref><ref>My Mail. Stephen Scherer. March 15th, 2007. Toronto Star.</ref><ref>In Profile: Stephen Scherer. February 2010. University of Toronto Faculty of Medicine Magazine.</ref><ref>50 Reasons to Love Toronto: No. 33, SickKids is closer to curing autism. June 9th, 2011. Toronto Life Magazine.</ref><ref>[http://www.chrcrm.org/en/rotm/dr-stephen-scherer-phd-frsc Canadians for Health Research]</ref> He founded the [http://dgvbeta.tcag.ca/dgv/app/home 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.<ref>Steacie Prize Award Address. June 11, 2004 Steacie Institute, National Research Council, Ottawa.</ref> 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.<ref>Science at the summit. A panel discussion on medical research with Premier's Summit Award winners Stephen Scherer, Frances Shepherd, John Dick and Tak Mak (moderated by David Naylor). May 27, 2008. CBC radio 'Ideas' with Paul Kennedy.</ref>
'''Stephen Wayne {{`}}Steve{{`}} Scherer''', PhD, DSc, FRSC, is a Canadian scientist who studies genetic variation in human disease. He obtained his PhD at the [[University of Toronto]] under Professor [[Tsui Lap-chee|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's group has published over 350 papers and patents cited more than 30,000 times.<ref>[http://scholar.google.ca/citations?user=NKTqN4IAAAAJ&hl=en&oi=ao Scherer's Citation count}</ref><ref>Geneticist honoured. Discovery of epilepsy gene puts researcher in elite group. May 10th, 2000. Windsor Star.</ref><ref>My Mail. Stephen Scherer. March 15th, 2007. Toronto Star.</ref><ref>In Profile: Stephen Scherer. February 2010. University of Toronto Faculty of Medicine Magazine.</ref><ref>50 Reasons to Love Toronto: No. 33, SickKids is closer to curing autism. June 9th, 2011. Toronto Life Magazine.</ref><ref>[http://www.chrcrm.org/en/rotm/dr-stephen-scherer-phd-frsc Canadians for Health Research]</ref> He also founded the Database of Genomic Variants, which facilitates clinical diagnoses of genetic diseases. <ref>[http://dgvbeta.tcag.ca/dgv/app/home The Database of Genomic Variants]</ref>
== Contributions to Science ==
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His pioneering discoveries led to the initial description{{Citation needed|date=July 2013}} 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.<ref>Patchwork people. October 20th, 2005. Nature.</ref><ref>{{cite journal|url=http://www.theglobeandmail.com/life/study-turns-human-genetics-on-its-head/article1110622/?page=all|title=Study turns human genetics on its head|date=November 23rd, 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> 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,<ref>Iafrate et al. Detection of large-scale variation in the human genome. 2004. Nature Genetics 36, 949-951. [http://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>


== Background ==
⚫
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. [http://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. [http://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. [http://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. [http://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:nqdriD65xNoC Google Scholar citation]</ref>
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Scherer was born (January 5, 1964) the second son of four boys to Eduard Scherer and Margaret Louise Scherer (née Stuhlmueller) in Windsor, Ontario. 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 (Windsor)|Riverside Secondary School]]. He played competitive hockey and baseball winning numerous provincial and national championships.<ref>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.</ref> 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]].


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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.
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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. [http://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. [http://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. [http://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 thousands of families with autism worldwide.<ref>Berkel et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 2010. Nature Genetics 42, 489-91 [http://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. [http://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. [http://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. [http://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 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. [http://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&sortby=pubdate&citation_for_view=NKTqN4IAAAAJ:EsrhoZGmrkoC Google Scholar citation]</ref> Watch an interview with Dr. Scherer on [http://www.magazine.utoronto.ca/feature/stephen-scherer-genetic-cause-of-autism-applied-genomics/#video ''The Agenda''] discussing DNA testing in autism or view online Q&As at [http://www.research.utoronto.ca/behind_the_headlines/what-is-autism/ "What is Autism"] and at [http://www.thenakedscientists.com/HTML/content/interviews/interview/1000140/ The Naked Scientists.]


== Research ==
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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. [http://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. [http://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:pQTOvowfQioC Google Scholar ciation]</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. [http://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. [http://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. [http://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. [http://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. [http://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. [http://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. [http://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 Dr. 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. [http://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. [http://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:PQEM9vzQD9gC Google Scholar citation]</ref> immensely impacting the lives of families suffering from this devastating disease.<ref>Gene hunters race against Lafora curse. September 27th, 2003. National Post</ref>
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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. {{Citation needed|date=July 2013}} 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=http://www.theglobeandmail.com/life/study-turns-human-genetics-on-its-head/article1110622/?page=all|title=Study turns human genetics on its head|date=November 23rd, 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. [http://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>


⚫
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. [http://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. [http://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. [http://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. [http://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:nqdriD65xNoC Google Scholar citation]</ref>
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In 2012, Scherer and colleagues launched the [http://www.personalgenomes.ca/ Personal Genome Project Canada]<ref>The Personal Genome Project: A brave new world for science and privacy. December 7th, 2012. Globe and Mail.</ref> and in 2013, with Mansoor Mohammed and Michael Scott Smith he founded YouNique Genomics.


⚫
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. [http://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. [http://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. [http://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 [http://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. [http://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. [http://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. [http://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 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. [http://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&sortby=pubdate&citation_for_view=NKTqN4IAAAAJ:EsrhoZGmrkoC Google Scholar citation]</ref>
== Life and times ==
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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.<ref>Codebuster. November 7th, 1998. Windsor Star.</ref> He attended Prince Charles Public School, Edith Cavell Junior High and [[Riverside Secondary School (Windsor)|Riverside Secondary School]]. He 'skipped' over grade 2, which "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".<ref>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.</ref> 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]]. A grade 8 teacher said he could be Prime Minister, whereas, a disgruntled University of Waterloo Professor was emphatic that he would amount to nothing. "The latter words had more impact", Scherer said in accepting the first Distinguished Science Alumni Award at the 50th Anniversary of the [[University of Waterloo]]. "Failure should be momentary and motivating".<ref>Scherer, SW. A prepared mind. September 27, 2007. Inaugural Distinguished Alumni Award Address, Faculty of Science, University of Waterloo.</ref>


⚫
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. [http://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. [http://scholar.google.ca/citations?view_op=view_citation&hl=en&user=NKTqN4IAAAAJ&pagesize=100&citation_for_view=NKTqN4IAAAAJ:pQTOvowfQioC Google Scholar ciation]</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. [http://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. [http://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. [http://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. [http://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. [http://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. [http://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. [http://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 Dr. 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. [http://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. [http://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>
⚫
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).


⚫
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> and in 2013, with Mansoor Mohammed and Michael Scott Smith he founded YouNique Genomics.
== Publications, media ==
⚫
Some 350 publications in the world's leading scientific journals like [[Nature (journal)|Nature]], [[Science (journal)|Science]], [[Nature Genetics]] and the [[New England Journal of Medicine]] document his work. These discoveries have headlined in the [[New York Times]], [[Globe and Mail]], [[The Independent]], South China News, as well as [[Time (magazine)|Time]], [[Newsweek]], [[CNN]], [[Readers Digest|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.<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> Some video interviews can be viewed at [http://www.youtube.com/results?search_query=scherer+stephen&oq=scherer+stephen&gs_l=youtube-reduced.12...10664.17763.0.19273.33.24.9.0.0.0.174.2210.12j11.23.0...0.0...1ac.1.gkR3KmJ_UpU YouTube]. 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> 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]].


== Media ==
== Honors, awards, appointments ==
⚫
Scherer appears regularly on the [[Canadian Broadcasting Corporation]] (CBC) and other national TV, radio, and media, including [[Quirks and Quarks]], explaining scientific breakthroughs.<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]].
⚫
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 honors such as: [http://www.canadastop40under40.com/ 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 [http://www.steacieprize.ca/index_e.html 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 [http://www.genomecanada.ca/ Genome Canada] and the international Human Genome Organization, and is a Fellow of the [[Canadian Institute for Advanced Research]]. He won the $5 million [http://news.ontario.ca/mri/en/2008/04/premiers-summit-award-in-medical-research.html Premier's Summit Award for Medical Research] (2008) for his "seminal contributions in redefining our understanding of genetic variation and disease studies". Recently he was also recognized as a [[Notable Sigma Chi Alumni|Significant Sigma Chi]] (2011),<ref>http://www.sigmachi.org/2011significantsigs.html</ref> 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).


== Trainees ==
== Honors ==
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).
Hundreds of students, clinicians, and scientists have trained with his team with alumni holding clinical, academic or government appointments. Examples include Drs. Danielle Andrade (Toronto), Elena Belloni (Milan), [https://www.lmc.ca/specialists/toronto/dr-andrew-boright/ Andrew Boright] (Toronto), Andrew Carson (San Diego), Sanaa Choufani (Toronto), Brian Chung (Hong Kong), Paromita Deb-Rinker (Ottawa), [http://www.med.mun.ca/Medicine/Faculty/Fernandez,-Bridget.aspx Bridget Fernandez] (St. John's), [http://www.scilifelab.uu.se/Research/Genome_Analysis/Lars_Feuk/ Lars Feuk](Uppsala), Konstanze Fischer (Ulm), [http://fso.w3.kanazawa-u.ac.jp/eng/profile_horike.html Shinichi Horike] (Yonago), Layla Katiraee (San Francisco), Hameed Khan (Edmonton), Ron Lebofsky (Boston), Dina Ianzano (Bologna), [http://www.yorku.ca/dakc/ Dorota Kwasnicka-Crawford](Toronto), [http://www.ncoedg.org/bfora/site/toggleaccessibility.asp%3Ftarget=%252FPOOLED%252FPROFILES%252FBF_COMP%252FVIEW.ASP%3FQ=BF_COMP_61408.html#http://research.med.helsinki.fi/molmed/Groups/Lohi/lohi_main.htm Hannes Lohi](Helsinki), Ken Lau (Nashville), Christian Marshall (Toronto), Katerina Michalickova (Oslo), [http://www.sickkids.ca/Research/AbouttheInstitute/Profiles/minassian-profile.html Berge Minassian] (Toronto), Rainald Moessner (Wurzberg), Kazuhiko Nakabayashi (Tokyo), [http://epigenetics.hgc.jp/okamura/ Kohji Okamura](Tokyo), [http://www.uhnresearch.ca/researchers/profile.php?lookup=4572 Lucy Osborne] (Toronto), Erwin Petek (Graz), Eul-Ju Seo (Seoul), [http://research.shirazu.ac.ir/faculty/Detail.asp?ID=895 Mohammad Mehdi Ghahramani Seno](Shiraz), Giovanni Traverso (Boston), [http://www.camh.net/research/scientific_Staff_profiles/bio_detail.php?cuserID=70 John Vincent] (Toronto), Iulia Opera (University College London), Takahiro Yamada (Hokkaido), [http://www.mountsinai.org/profiles/dalilia-pinto Dalila Pinto] (New York), Daisuke Sato (Tokyo), Aparna Prasad (Barcelona), Ohsuke Migita (Tokyo), Sabrina Tosi (Oxford), Raymond Kim (Toronto), Andrea Vaags (Calgary) and Andy Pang (San Diego). Other professional alumni include Elayne Chan (biotechnology, Boston), Dean Sas (business, New York), Jonathan Grover (business, San Francisco), Aabed Meer (medicine, Stanford), [[David Alpay]] (actor), [http://www.bereskinparr.com/People/Laurence_MacPhie/?srch=M Laurence MacPhie] (patent lawyer, Bereskin & Parr, Toronto) and others.


⚫
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" {{cn}}. Recently he was also recognized as a [[Notable Sigma Chi Alumni|Significant Sigma Chi]] (2011),<ref>http://www.sigmachi.org/2011significantsigs.html</ref> 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).
A full list of current staff and alumni can be found on the [http://www.tcag.ca/staff/index.html TCAG website].


== References ==
== References ==
⚫
{{reflist|2}}


==Further reading==
⚫
{{reflist}}
*An interview with Scherer on [http://www.magazine.utoronto.ca/feature/stephen-scherer-genetic-cause-of-autism-applied-genomics/#video ''The Agenda''] discussing DNA testing in autism.
*A Q&A with Scherer at [http://www.research.utoronto.ca/behind_the_headlines/what-is-autism/ "What is Autism"] and at [http://www.thenakedscientists.com/HTML/content/interviews/interview/1000140/ The Naked Scientists.]


{{Persondata <!-- Metadata: see [[Wikipedia:Persondata]]. -->
{{Persondata <!-- Metadata: see [[Wikipedia:Persondata]]. -->

Revision as of 23:28, 3 September 2013

Dr. Stephen W. Scherer

Stephen Wayne 'Steve' Scherer, PhD, DSc, FRSC, 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's group has published over 350 papers and patents cited more than 30,000 times.[1][2][3][4][5][6] He also founded the Database of Genomic Variants, which facilitates clinical diagnoses of genetic diseases. [7]

Background

Scherer was born (January 5, 1964) the second son of four boys to Eduard Scherer and Margaret Louise Scherer (née Stuhlmueller) in Windsor, Ontario. 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.[8] 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.

Research

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. [citation needed] 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.[9][10][11] 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.[12] 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,[13] 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".[14]

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.[15][16] 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,[17] which contributed to the completion of the first genome sequence of an individual.[18]

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.[19][20][21] These discoveries have led to broadly available tests facilitating early diagnostic information for autism.[22][23][24][25][26][27][28][29][30][31][32][33] 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.[34][35]

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.[36][37][38] Through collaborative research, genes causative in holoprosencephaly,[39][40] renal carcinoma,[41] Williams syndrome,[42][43] sacral agenesis,[44] citrullinemia,[45] renal tubular acidosis,[46] and many others were identified. His group also discovered the largest gene in the genome, which was later found to be involved in autism.[47] 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.[48] In other studies with Dr. Berge Minassian, disease genes causing deadly forms of epilepsy were identified.[49][50][51]

In 2012, Scherer and colleagues launched the Personal Genome Project Canada[52] and in 2013, with Mansoor Mohammed and Michael Scott Smith he founded YouNique Genomics.

Media

Scherer appears regularly on the Canadian Broadcasting Corporation (CBC) and other national TV, radio, and media, including Quirks and Quarks, explaining scientific breakthroughs.[53][54][55][56][57][58] He was featured in Roger Martin's book The Design of Business [59] 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.

Honors

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),[60] 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).

References

  1. ^ [http://scholar.google.ca/citations?user=NKTqN4IAAAAJ&hl=en&oi=ao Scherer's Citation count}
  2. ^ Geneticist honoured. Discovery of epilepsy gene puts researcher in elite group. May 10th, 2000. Windsor Star.
  3. ^ My Mail. Stephen Scherer. March 15th, 2007. Toronto Star.
  4. ^ In Profile: Stephen Scherer. February 2010. University of Toronto Faculty of Medicine Magazine.
  5. ^ 50 Reasons to Love Toronto: No. 33, SickKids is closer to curing autism. June 9th, 2011. Toronto Life Magazine.
  6. ^ Canadians for Health Research
  7. ^ The Database of Genomic Variants
  8. ^ 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.
  9. ^ Patchwork people. October 20th, 2005. Nature.
  10. ^ Carolyn Abraham (November 23rd, 2006). "Study turns human genetics on its head". The Globe and Mail. {{cite journal}}: Check date values in: |date= (help)
  11. ^ Steve Olson (November 2007). "The changing face of DNA" (PDF). Howard Hughes Medical Institute Bulletin.
  12. ^ DNA deletions and duplications help determine health. September 7th, 2007. Science.
  13. ^ Iafrate et al. Detection of large-scale variation in the human genome. 2004. Nature Genetics 36, 949-951. Google Scholar citation
  14. ^ Conversation. Two leading researchers discuss the value of oddball data. November 2009. An interview with Stephen Scherer and Roger Martin. Harvard Business Review.
  15. ^ Redon et al. Global variation in copy number in the human genome. 2006. Nature 444, 444-454. Google Scholar Citation
  16. ^ Conrad et al. Origins and functional impact of copy number variation in the human genome. 2009. Nature 464, 704-12. Google Scholar citation
  17. ^ Khaja et al. Genome assembly comparison to identify structural variants in the human genome. 2006. Nature Genetics 38, 1413-1418. Google Scholar citation
  18. ^ Levy et al. The diploid genome sequence of an individual human. 2007. PLoS Biology 5, e254. Google Scholar citation
  19. ^ 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
  20. ^ Marshall et al. Structural variation of chromosomes in autism spectrum disorder. 2008. American Journal of Human Genetics 82, 477-88. Google Scholar citation
  21. ^ Pinto et al. Functional impact of global rare copy number variation in autism spectrum disorders. 2010. Nature 466, 368-372. Google Scholar citation
  22. ^ 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
  23. ^ 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
  24. ^ 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
  25. ^ Sato et al. SHANK1 Deletions in Males with Autism Spectrum Disorder. 2012. American Journal of Human Genetics 90, 879-887. Google Scholar citation
  26. ^ Science City: Racing to solve the puzzle of autism. January 5th, 2008. Globe and Mail.
  27. ^ Canadian breakthrough offers hope on autism. February 19th, 2007. Globe and Mail
  28. ^ Solving puzzle of son's autism soothes family. January 18th, 2008. Toronto Star
  29. ^ Researchers discover genetic patterns of autism. June 9th, 2010. Time Magazine
  30. ^ Genetic finding paves way for controversial autism testing. June 10th, 2010. Globe and Mail
  31. ^ Autism genetics: A breakthrough that sheds light on a medical mystery. June 10th, 2010. The Independent
  32. ^ Understanding Autism. Spring 2011. University of Toronto Magazine
  33. ^ Special Series: Autism's new frontiers. February 17th, 2013. Ottawa Citizen
  34. ^ Canadian-led team delves deep into genetic code of autistic individuals. July 11th, 2013. Globe and Mail.
  35. ^ 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
  36. ^ The treasures of chromosome 7. Autumn 2001. The University of Toronto Magazine
  37. ^ Walking the jungles and deserts of chromosome 7. September 2003. Howard Hughes Medical Institute Bulletin
  38. ^ Milestones in Canadian Health Research; Decoding life. 2010. Canadian Institutes of Health Research
  39. ^ Belloni et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. 1996. Nature Genetics 14, 353-356. Google Scholar citation
  40. ^ Roessler et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. 1996. Nature Genetics 14, 357-360. Google Scholar ciation
  41. ^ 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
  42. ^ 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
  43. ^ 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
  44. ^ 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
  45. ^ 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
  46. ^ 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
  47. ^ Canadian scientists discover giant gene. February 10th, 2001. Globe and Mail.
  48. ^ Scherer et al. Chromosome 7: DNA Sequence and Biology. 2003. Science 300, 767-772. Google Scholar citation
  49. ^ 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
  50. ^ Chan et al. Mutations in NHLRC1 cause progressive myoclonus epilepsy. 2003. Nature Genetics 35, 125-127. Google Scholar citation
  51. ^ Gene hunters race against Lafora curse. September 27th, 2003. National Post
  52. ^ The Personal Genome Project: A brave new world for science and privacy. December 7th, 2012. Globe and Mail.
  53. ^ The human genome, and Pandora's box. Counterpoint: an interview with Margaret Wente. June 29th, 2000. Globe and Mail.
  54. ^ Scherer, SW. By knowing our genomes, we will begin to truly know ourselves. Commentary August 7th, 2007. Globe and Mail.
  55. ^ Scherer, SW. Perfect genomics. Question of the Year 2007. Nature Genetics.
  56. ^ Scherer, SW. 25 great ideas from great minds. January 4, 2007. Toronto Star.
  57. ^ Brainwashed. Rethinking man's genetic makeup. November 2010, The Walrus.
  58. ^ Scherer, SW. Genomics is the medium for 21st century biology. Editorial. 2012. Genome 55, v-vi.
  59. ^ The reliability bias in The Design of Business. Roger Martin. Harvard Business Press.
  60. ^ http://www.sigmachi.org/2011significantsigs.html

Further reading

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