| Dr. Stephen W. Scherer | |
|---|---|
Stephen Wayne 'Steve' Scherer, PhD, DSc, FRSC (born January 5, 1964), 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 Lap-chee Tsui, discoverer of the cystic fibrosis gene. Together they founded Canada's first human genome centre, the Centre for Applied Genomics (TCAG) at the Hospital for Sick Children. He continues to serve as Director of the multi-million dollar TCAG, and is also Director of the McLaughlin Centre, a $100M initiative in genomic medicine at the University of Toronto Faculty of Medicine. His group has made several discoveries, documented in 300 publications and patents cited more than 20,000 times, positioning him as one of the most prolific scientists of his generation.[1][2][3] He founded the Database of Genomic Variants, which facilitates tens 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.[4] 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.[5]
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His pioneering 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. 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.[6][7][8] Larger genomic CNV changes involving losses or gains of thousands or millions of nucleotides encompassing hundreds of genes were thought to be exceptionally rare, and almost always involved in disease.[9] Dr. Scherer's discovery of frequent CNV events found in the genomes of all cells in every individual, co-published with Dr. Charles Lee of Harvard in 2004,[10] 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".[11]
Scherer and Lee and collaborators at the Wellcome Trust Sanger Institute (led by Drs. Nigel Carter and Matthew Hurles) then generated the first CNV maps of human DNA revealing the structural properties, mechanisms of formation, and population genetics of this previously unrecognized ubiquitous form of natural variation.[12][13] 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,[14] which contributed to the completion of the first genome sequence of an individual.[15]
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.[16][17][18] These discoveries have led to broadly available tests facilitating early diagnostic information for thousands of families with autism worldwide.[19][20][21][22][23][24][25]
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.[26][27][28][29] Through collaborative research, genes causative in holoprosencephaly,[30][31] renal carcinoma,[32] Williams syndrome,[33][34] sacral agenesis,[35] citrullinemia,[36] renal tubular acidosis,[37] and many others were identified. 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.[38] In other studies with Dr. Berge Minassian, disease genes causing deadly forms of epilepsy were identified,[39][40] immensely impacting the lives of families suffering from this devastating disease.[41]
He was born 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.[42] He attended Prince Edward Public School, Edith Cavell Junior High and 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 a year 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".[43] He completed his Honors Science Degree at the University of Waterloo, Master's of Science and Doctor of Philosophy 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".[44]
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-Bloor West Village 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).
Some 300 publications in the world's leading scientific journals like Nature, Science, Nature Genetics and the New England Journal of Medicine document his work. These discoveries have headlined in the New York Times, Globe and Mail, The Independent, South China News, as well as Time, Newsweek, CNN, Reader's Digest, Scientific American, The Walrus, the Harvard Business Review, Playboy, and many others. He appears regularly on the Canadian Broadcasting Corporation (CBC) and other national TV, radio, and media, including Quirks and Quarks, explaining scientific breakthroughs.[45][46][47][48][49] Some video interviews are at (http://www.youtube.com/watch?v=SdbVzkiC5dk&feature=related). He was recently featured in Roger Martin's book The Design of Business.[50] 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.
Professor Scherer holds the GlaxoSmithKline-Canadian Institutes of Health Research Chair in Genetics and Genomics at the Hospital for Sick Children and University of Toronto. He has won numerous honors such as: 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) 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 Scholar 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". He was also recognized as a Significant Sigma Chi in 2011 [51].
Hundreds of students, clinicians, and scientists have trained with his team with alumni holding clinical, academic or government appointments including Drs. Danielle Andrade (Toronto), Elena Belloni (Milan), Andrew Boright (Toronto), Andrew Carson (San Diego), Sanaa Choufani (Toronto), Brian Chung (Hong Kong), Paromita Deb-Rinker (Ottawa), Bridget Fernandez (St. John's), Lars Feuk (Uppsala), Konstanze Fischer (Ulm), Shiniche Horike (Yonago), Layla Katiraee (San Francisco), Hameed Khan (St. John's), Ron Lebofsky (Boston), Dina Ianzano (Bologna), Dorota Kwasnicka-Crawford (Toronto), Hannes Lohi (Helsinki), Christian Marshall (Toronto), Katerina Michalickova (Oslo), Berge Minassian (Toronto), Rainald Moessner (Wurzberg), Kazuhiko Nakabayashi (Tokyo), Kohji Okamura (Tokyo), Lucy Osborne (Toronto), Erwin Petek (Graz), Eul-Ju Seo (Seoul), Mohammad Mahdi Ghahramani Seno (Shiraz), Giovanni Traverso (Boston), John Vincent (Toronto) and Takahiro Yamada (Hokkaido). 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), and others.
A full list of current staff and alumni can be found on the TCAG website.