Stephen W. Scherer
Encyclopedia
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. 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. 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.
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. 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, which contributed to the completion of the first genome sequence of an individual.
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. These discoveries have led to broadly available tests facilitating early diagnostic information for thousands of families with autism worldwide.
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. Through collaborative research, genes causative in holoprosencephaly, renal carcinoma, Williams syndrome, sacral agenesis, citrullinemia, renal tubular acidosis, 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. In other studies with Dr. Berge Minassian, disease genes causing deadly forms of epilepsy were identified, immensely impacting the lives of families suffering from this devastating disease.
. 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". 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".
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).
, 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. 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. 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
.
(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 .
(actor), and others.
A full list of current staff and alumni can be found on the TCAG website.
University of Toronto
The University of Toronto is a public research university in Toronto, Ontario, Canada, situated on the grounds that surround Queen's Park. It was founded by royal charter in 1827 as King's College, the first institution of higher learning in Upper Canada...
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
The Centre for Applied Genomics
The Centre for Applied Genomics is a genome centre in the Research Institute of The Hospital for Sick Children, and is affiliated with the University of Toronto. TCAG also operates as a Science and Technology Innovation Centre of , with an emphasis on next-generation sequencing and bioinformatics...
(TCAG) at the Hospital for Sick Children
Hospital for Sick Children
The Hospital for Sick Children – is a major paediatric centre for the Greater Toronto Area, serving patients up to age 18. Located on University Avenue in Downtown Toronto, SickKids is part of the city’s Discovery District, a critical mass of scientists and entrepreneurs who are focused on...
. 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
University of Toronto Faculty of Medicine
The Faculty of Medicine, University of Toronto is the medical school of the University of Toronto. The faculty is based in the Discovery District of Downtown Toronto along with most of its teaching hospitals and research institutes. Founded in 1843, it is one of Canada's oldest institutions of...
. 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. 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. 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.
Contributions to Science
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. 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. 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, 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".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. 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
Craig Venter
John Craig Venter is an American biologist and entrepreneur, most famous for his role in being one of the first to sequence the human genome and for his role in creating the first cell with a synthetic genome in 2010. Venter founded Celera Genomics, The Institute for Genomic Research and the J...
's team, which contributed to the completion of the first genome sequence of an individual.
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. These discoveries have led to broadly available tests facilitating early diagnostic information for thousands of families with autism worldwide.
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. Through collaborative research, genes causative in holoprosencephaly, renal carcinoma, Williams syndrome, sacral agenesis, citrullinemia, renal tubular acidosis, and many others were identified. The sum of this work including contributions from scientists worldwide and J. Craig Venter
Craig Venter
John Craig Venter is an American biologist and entrepreneur, most famous for his role in being one of the first to sequence the human genome and for his role in creating the first cell with a synthetic genome in 2010. Venter founded Celera Genomics, The Institute for Genomic Research and the J...
's Celera Genomics, generated the first published description of human chromosome 7. In other studies with Dr. Berge Minassian, disease genes causing deadly forms of epilepsy were identified, immensely impacting the lives of families suffering from this devastating disease.
Life and times
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. He attended Prince Edward Public School, Edith Cavell Junior High and Riverside Secondary SchoolRiverside Secondary School (Windsor)
Riverside Secondary School is a public high school that offers programs and classes for grades 9 to 12 in the community of Riverside, in the east end of Windsor, Ontario, Canada....
. 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". He completed his Honors Science Degree at the University of Waterloo
University of Waterloo
The University of Waterloo is a comprehensive public university in the city of Waterloo, Ontario, Canada. The school was founded in 1957 by Drs. Gerry Hagey and Ira G. Needles, and has since grown to an institution of more than 30,000 students, faculty, and staff...
, Master's of Science and Doctor of Philosophy at the University of Toronto
University of Toronto
The University of Toronto is a public research university in Toronto, Ontario, Canada, situated on the grounds that surround Queen's Park. It was founded by royal charter in 1827 as King's College, the first institution of higher learning in Upper Canada...
. 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
University of Waterloo
The University of Waterloo is a comprehensive public university in the city of Waterloo, Ontario, Canada. The school was founded in 1957 by Drs. Gerry Hagey and Ira G. Needles, and has since grown to an institution of more than 30,000 students, faculty, and staff...
. "Failure should be momentary and motivating".
He married Sharon 'Jo-Anne' Herbrick (born March 13, 1972) on February 2, 2002 in the Timothy Eaton Memorial Church
Timothy Eaton Memorial Church
Timothy Eaton Memorial Church, in Toronto, Canada, was erected at 230 St. Clair Avenue West in 1914 as a Methodist congregation, and named for department store founder Timothy Eaton....
in Toronto. They reside in Swansea-Bloor West Village area of Toronto
Toronto
Toronto is the provincial capital of Ontario and the largest city in Canada. It is located in Southern Ontario on the northwestern shore of Lake Ontario. A relatively modern city, Toronto's history dates back to the late-18th century, when its land was first purchased by the British monarchy from...
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).
Publications, media
Some 300 publications in the world's leading scientific journals like NatureNature (journal)
Nature, first published on 4 November 1869, is ranked the world's most cited interdisciplinary scientific journal by the Science Edition of the 2010 Journal Citation Reports...
, Science
Science (journal)
Science is the academic journal of the American Association for the Advancement of Science and is one of the world's top scientific journals....
, Nature Genetics
Nature Genetics
Nature Genetics is a scientific journal concerning genetics. It is published by Nature Publishing Group, and was founded as part of the Nature family of journal in 1992. The 2010 impact factor is 36.377. Its sister journal is Nature Reviews Genetics.- External links :*...
and the New England Journal of Medicine
New England Journal of Medicine
The New England Journal of Medicine is an English-language peer-reviewed medical journal published by the Massachusetts Medical Society. It describes itself as the oldest continuously published medical journal in the world.-History:...
document his work. These discoveries have headlined in the New York Times, Globe and Mail, The Independent
The Independent
The Independent is a British national morning newspaper published in London by Independent Print Limited, owned by Alexander Lebedev since 2010. It is nicknamed the Indy, while the Sunday edition, The Independent on Sunday, is the Sindy. Launched in 1986, it is one of the youngest UK national daily...
, South China News, as well as Time
Time (magazine)
Time is an American news magazine. A European edition is published from London. Time Europe covers the Middle East, Africa and, since 2003, Latin America. An Asian edition is based in Hong Kong...
, Newsweek
Newsweek
Newsweek is an American weekly news magazine published in New York City. It is distributed throughout the United States and internationally. It is the second-largest news weekly magazine in the U.S., having trailed Time in circulation and advertising revenue for most of its existence...
, CNN
CNN
Cable News Network is a U.S. cable news channel founded in 1980 by Ted Turner. Upon its launch, CNN was the first channel to provide 24-hour television news coverage, and the first all-news television channel in the United States...
, Reader's Digest, Scientific American
Scientific American
Scientific American is a popular science magazine. It is notable for its long history of presenting science monthly to an educated but not necessarily scientific public, through its careful attention to the clarity of its text as well as the quality of its specially commissioned color graphics...
, The Walrus
The Walrus
The Walrus is a Canadian general interest magazine which publishes long form journalism on Canadian and international affairs, along with fiction and poetry by Canadian writers. It launched in September 2003, as an attempt to create a Canadian equivalent to American magazines such as Harper's, The...
, the Harvard Business Review
Harvard Business Review
Harvard Business Review is a general management magazine published since 1922 by Harvard Business School Publishing, owned by the Harvard Business School. A monthly research-based magazine written for business practitioners, it claims a high ranking business readership among academics, executives,...
, Playboy, and many others. He appears regularly on the Canadian Broadcasting Corporation
Canadian Broadcasting Corporation
The Canadian Broadcasting Corporation, commonly known as CBC and officially as CBC/Radio-Canada, is a Canadian crown corporation that serves as the national public radio and television broadcaster...
(CBC) and other national TV, radio, and media, including Quirks and Quarks
Quirks and Quarks
Quirks & Quarks is a Canadian weekly science news program heard over CBC Radio One of the Canadian Broadcasting Corporation ....
, explaining scientific breakthroughs. Some video interviews are at (http://www.youtube.com/watch?v=SdbVzkiC5dk&feature=related). He was recently featured in Roger Martin
Roger Martin
Roger Martin is Dean of the Rotman School of Management at the University of Toronto and an author of several business books. Martin has originated several important business concepts in use today, including integrative thinking...
's book The Design of Business. 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
Gemini Award
The Gemini Awards are annual television broadcasting industry awards in Canada.First awarded in 1986, the Geminis celebrate the achievements of TV members of the Academy of Canadian Cinema & Television. Essentially, it presents awards for the best television productions in Canada. Awards are...
-winning documentary, “After Darwin” by GalaFilms-Telefilm Canada
Telefilm Canada
Telefilm Canada or Téléfilm Canada is a Crown corporation owned by the Government of Canada.It is the primary federal cultural agency dedicated to the development and promotion of the Canadian audiovisual industry....
.
Honors, awards, appointments
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 WindsorUniversity of Windsor
The University of Windsor is a public comprehensive and research university in Windsor, Ontario, Canada. It is Canada's southernmost university. It has a student population of approximately 15,000 full-time and part-time undergraduate students and over 1000 graduate students...
(2001), Scholar of the Howard Hughes Medical Institute
Howard Hughes Medical Institute
Howard Hughes Medical Institute is a United States non-profit medical research organization based in Chevy Chase, Maryland. It was founded by the American businessman Howard Hughes in 1953. It is one of the largest private funding organizations for biological and medical research in the United...
(2002), Genetics Society of Canada Scientist Award (2002), the Canadian Institute for Advanced Research
Canadian Institute for Advanced Research
The Canadian Institute for Advanced Research enables Canadian researchers to work on international research teams that are custom built to transform their fields of study...
Explorer Award (2002), the Steacie Prize in the Natural Sciences (2004), Fellow of the Royal Society of Canada
Royal Society of Canada
The Royal Society of Canada , may also operate under the more descriptive name RSC: The Academies of Arts, Humanities and Sciences of Canada , is the oldest association of scientists and scholars in Canada...
(2007) and the inaugural Distinguished Science Alumni Award-University of Waterloo
University of Waterloo
The University of Waterloo is a comprehensive public university in the city of Waterloo, Ontario, Canada. The school was founded in 1957 by Drs. Gerry Hagey and Ira G. Needles, and has since grown to an institution of more than 30,000 students, faculty, and staff...
(2007). He is on the Scientific Advisory Board of Autism Speaks
Autism Speaks
Autism Speaks is the world's largest autism advocacy organization that sponsors autism research and conducts awareness and outreach activities aimed at families, governments, and the public. It was founded in February 2005 by Bob Wright, vice chairman of General Electric, and by his wife Suzanne, a...
, the Board of Trustees of Genome Canada and the international Human Genome Organization, and is a Scholar of the Canadian Institute for Advanced Research
Canadian Institute for Advanced Research
The Canadian Institute for Advanced Research enables Canadian researchers to work on international research teams that are custom built to transform their fields of study...
. 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 .
Trainees
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 AlpayDavid Alpay
David Alpay is a Canadian actor.-Education:Alpay had planned to pursue a career in neuroscience when he was studying at Earl Haig Secondary School in North York, Ontario. He even went so far as to win the University of Maryland, Baltimore's Brain Bee in grade 12...
(actor), and others.
A full list of current staff and alumni can be found on the TCAG website.