講演情報
[IL3]Genome science research informing biology, diagnosis, and prospects for treatment in Autism Spectrum Disorder
Stephen Scherer (The Hospital for Sick Children, University of Toronto, Canada)
Short Biography
BIOSKETCH, RESEARCH INTERESTS, TEACHING AND EDUCATION
Professor Scherer’s research includes understanding the composition of the genome for studies of genetic disease built upon three themes: (1) gene copy number- and structural- variation (CNV or SV) in the human genome, (2) determining the genetic architecture underlying autism spectrum disorders (ASD), and (3) developing technology, infrastructure, and capacity for translational genomic research. He has co-published 724 papers with many being in the highest impact journals such as Nature, Nature Genetics, Nature Medicine, the New England Journal of Medicine, JAMA and Science. His discoveries have also headlined in the Globe and Mail, New York Times, Washington Post, The Independent, Time, Newsweek, Scientific American, and he often appears on the Canadian Broadcasting Corporation and other media outlets explaining scientific breakthroughs. He represented Canada on the Boards of Trustees of the Human Genome Organization and the American Society of Human Genetics. He achieved the distinction of Thomson Reuters (now Clarivate Analytics) Highly Cited Researcher (current Web of Science h-index=129; 78,498 citations; Google Scholar h-index=167; 139,616 citations).
In 2014, he was selected as a Thomson Reuters Citation Laureate in Physiology or Medicine (with Charles Lee and Michael Wigler) “For the discovery of large-scale copy number variation and its association with specific diseases”, placing his name on an exclusive list of ‘Researchers of Nobel Class’. He has been awarded a Howard Hughes Medical Institute Scholarship (2002-2007), the Steacie Prize in the Natural Sciences (2004), Fellow of the Royal Society of Canada (2007), the Premier’s Summit Award for Biomedical Research (2008), Fellow of the American Association for the Advancement of Science (2011), the Queen Elizabeth II Diamond Jubilee medal for contributions to Canada (2013), Canada’s Killam Prize in Health Sciences (2019), Debrecen Award for Molecular Medicine (2024) and three honorary degrees. He founded the Database of Genomic Variants, the first and most utilized database by clinical laboratories worldwide to interpret CNV and SV data in diagnostics. He also founded the Canadian Personal Genome Project, the Autism Speaks MSSNG 10,000 Genome Sequencing project, Canseq150 (launched for Canada’s 150th birthday to sequence 150 genomes of species most relevant to Canada’s culture/environment/economy), and Canada’s Covid-19 host genome sequencing project, all operating under “open science” principles. He has supervised 23 graduate students, 50 post-doctoral fellows, 55 visiting fellows and >200 undergraduate students; and these researchers are now working in 20 countries around the world. He has also delivered >450 invited presentations in 32 countries.
Dr. Scherer holds the Northbridge Chair in Paediatric Research, a joint Hospital-University Chair between the University of Toronto, The Hospital for Sick Children, and the SickKids Foundation. For his contributions he is recognized as a distinguished ‘University’ Professor at the University of Toronto, the very highest distinction held by only a few its faculty, at a time. He is also a Senior Fellow at Massey College in the University of Toronto.
EDUCATION and DEGREES
1982 Graduated Riverside Secondary School, Windsor, Ontario, Canada
1987 Hons. B.Sc. Biology and Chemistry, University of Waterloo
1991 M.Sc. Medical Biophysics, University of Toronto
1995 Ph.D. Molecular and Medical Genetics, University of Toronto (Supervisor: Prof. Lap-Chee Tsui)
2000 DSc. Honorary Doctorate of Science, University of Windsor
2017 DSc. Honorary Doctorate of Science, University of Waterloo
2018 DSc. Honorary Doctorate of Science, Western University
MAJOR AWARDS, DISTINCTIONS
2000 Canada’s Top 40 Under 40 AwardTM for Contributions to Society
2002-2007 Howard Hughes Medical Institute International Scholar Award
2004 Steacie Prize Award in the Natural Sciences (National Research Council of Canada)
2006 Fellow, Academy of Science, Royal Society of Canada
2008 Premier’s Summit Award for Biomedical Research ($5 million dollars)
2011 Fellow, American Association for the Advancement of Science
2013 Queen Elizabeth II Diamond Jubilee Medal for contributions to Canada
BIOSKETCH, RESEARCH INTERESTS, TEACHING AND EDUCATION
Professor Scherer’s research includes understanding the composition of the genome for studies of genetic disease built upon three themes: (1) gene copy number- and structural- variation (CNV or SV) in the human genome, (2) determining the genetic architecture underlying autism spectrum disorders (ASD), and (3) developing technology, infrastructure, and capacity for translational genomic research. He has co-published 724 papers with many being in the highest impact journals such as Nature, Nature Genetics, Nature Medicine, the New England Journal of Medicine, JAMA and Science. His discoveries have also headlined in the Globe and Mail, New York Times, Washington Post, The Independent, Time, Newsweek, Scientific American, and he often appears on the Canadian Broadcasting Corporation and other media outlets explaining scientific breakthroughs. He represented Canada on the Boards of Trustees of the Human Genome Organization and the American Society of Human Genetics. He achieved the distinction of Thomson Reuters (now Clarivate Analytics) Highly Cited Researcher (current Web of Science h-index=129; 78,498 citations; Google Scholar h-index=167; 139,616 citations).
In 2014, he was selected as a Thomson Reuters Citation Laureate in Physiology or Medicine (with Charles Lee and Michael Wigler) “For the discovery of large-scale copy number variation and its association with specific diseases”, placing his name on an exclusive list of ‘Researchers of Nobel Class’. He has been awarded a Howard Hughes Medical Institute Scholarship (2002-2007), the Steacie Prize in the Natural Sciences (2004), Fellow of the Royal Society of Canada (2007), the Premier’s Summit Award for Biomedical Research (2008), Fellow of the American Association for the Advancement of Science (2011), the Queen Elizabeth II Diamond Jubilee medal for contributions to Canada (2013), Canada’s Killam Prize in Health Sciences (2019), Debrecen Award for Molecular Medicine (2024) and three honorary degrees. He founded the Database of Genomic Variants, the first and most utilized database by clinical laboratories worldwide to interpret CNV and SV data in diagnostics. He also founded the Canadian Personal Genome Project, the Autism Speaks MSSNG 10,000 Genome Sequencing project, Canseq150 (launched for Canada’s 150th birthday to sequence 150 genomes of species most relevant to Canada’s culture/environment/economy), and Canada’s Covid-19 host genome sequencing project, all operating under “open science” principles. He has supervised 23 graduate students, 50 post-doctoral fellows, 55 visiting fellows and >200 undergraduate students; and these researchers are now working in 20 countries around the world. He has also delivered >450 invited presentations in 32 countries.
Dr. Scherer holds the Northbridge Chair in Paediatric Research, a joint Hospital-University Chair between the University of Toronto, The Hospital for Sick Children, and the SickKids Foundation. For his contributions he is recognized as a distinguished ‘University’ Professor at the University of Toronto, the very highest distinction held by only a few its faculty, at a time. He is also a Senior Fellow at Massey College in the University of Toronto.
EDUCATION and DEGREES
1982 Graduated Riverside Secondary School, Windsor, Ontario, Canada
1987 Hons. B.Sc. Biology and Chemistry, University of Waterloo
1991 M.Sc. Medical Biophysics, University of Toronto
1995 Ph.D. Molecular and Medical Genetics, University of Toronto (Supervisor: Prof. Lap-Chee Tsui)
2000 DSc. Honorary Doctorate of Science, University of Windsor
2017 DSc. Honorary Doctorate of Science, University of Waterloo
2018 DSc. Honorary Doctorate of Science, Western University
MAJOR AWARDS, DISTINCTIONS
2000 Canada’s Top 40 Under 40 AwardTM for Contributions to Society
2002-2007 Howard Hughes Medical Institute International Scholar Award
2004 Steacie Prize Award in the Natural Sciences (National Research Council of Canada)
2006 Fellow, Academy of Science, Royal Society of Canada
2008 Premier’s Summit Award for Biomedical Research ($5 million dollars)
2011 Fellow, American Association for the Advancement of Science
2013 Queen Elizabeth II Diamond Jubilee Medal for contributions to Canada
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