Innovation Profile: The Centre for Applied Genomics at The Hospital for Sick Children and Canadian Institute for Advanced Research
The Centre for Applied Genomics at the Hospital for Sick Children has become one of the largest and busiest genome centres in the world. Home to the globally-important Database of Genomic Variants, the Centre is led by world-renowned geneticist, Dr Steve Scherer. His groundbreaking research is paving the way for new approaches to personalized medicine and pushing the frontiers of global research collaborations such as Toronto's own Canadian Institute for Advanced Research. Read full profile below.
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Dr Steve Scherer | Chaviva Hosek President and CEO, Canadian Institute for Advanced Research |
Ground Breaking Discovery in Human Genomics
In the early 2000s, Dr Steve Scherer, Director of The Centre for Applied Genomics at The Hospital for Sick Children, noticed that an age-old assumption was no longer adding up. Typically, we inherit one copy of a segment of DNA or chromosome from each of our parents resulting in a DNA copy number of two.
In collaboration with Dr Charles Lee of Harvard University, Dr Scherer observed that many DNA segments are present in numbers other than two. In some cases none at all. In others, as many as three, four or more copies.
"It was something we didn't think could occur at such a high frequency," says the University of Toronto Professor. "And that's why we didn't discover it for such a long time; people just didn't know how to look for it." In August 2004, after reproducing their findings with a gamut of technologies, the team convinced a group of skeptical reviewers. The results were published in the prestigious scientific journal, Nature Genetics.
More recently, Dr Scherer's area of study was recognized by Science as the Story of the Year. "I knew the importance of this discovery because this is what I trained for my entire career," says Dr Scherer. "I had no idea how quickly it would be taken up by the community."
Dr Scherer has a particular interest in the genetics that underlie autism. Of late, he has discovered that a cohort of autism cases share a similar variation in genetic copy numbers. "We've developed a team of developmental pediatricians, molecular biologists and computer scientists, all working on studying the genetics of autism," says Dr Scherer. "We could not have developed this group anywhere else in Canada or the world."
Under Dr Scherer's leadership, The Centre for Applied Genomics has become one of the largest and busiest genome centres in the world. Established in 1998, it was the first human genome centre in Canada. Today, it is home to over 75 experts from diverse specialties supporting over 500 labs in Ontario and many more in the rest of Canada, the US and around the world.
At the heart of the Centre is the Database for Genomic Variants, an on-line catalogue of normal copy number variations in different populations worldwide. Dr Scherer's team has been analyzing thousands of DNA samples using the latest microarray technologies to generate this baseline map. Most often referred to as the Toronto Database, it has become the 'go to' source for pharmaceutical companies, clinicians and academic labs worldwide. Through a web portal, they can compare copy number variations in their own samples to those of healthy populations, offering clues in the identification of new disease genes and the potential for more personalized drug therapies and dosages.
"It is truly advantageous to be in the MaRS Centre and within the University of Toronto teaching hospital community," says Dr Scherer. "In these few blocks, we have the most vibrant, successful, and highly motivated set of scientists in the world. For 
me, Toronto has everything that I need to be successful in my career and also in my family life."
Chaviva Hosek, President and CEO of the Canadian Institute for Advanced Research, first met Dr Scherer when the institute's program on Genetic Networks began. "Steve Scherer has received worldwide recognition and many awards for his research. He received an enormous grant from the Wellcome Trust. He also just recently received the Premier of Ontario's Summit Award for Excellence which will give his research $5 million over 5 years," says Chaviva Hosek.
Based in Toronto, the Canadian Institute for Advanced Research, or CIFAR, brings 300 of the world's top researchers together to tackle ambitious and globally significant research questions. Researchers participate in 13 collaborative networks across a range of diverse and complex areas of inquiry.
Chaviva Hosek cites Dr Scherer and The Centre for Applied Genomics as a vivid example of how leading researchers in the Toronto Region act like 'talent magnets' attracting other top researchers and graduate students who want to work with and learn from the best and brightest. Says Hosek, "There is a kind of ripple effect of both talented people and resources that gather together to make this an incredible place to do research."
April 29, 2010: Dr Steve Scherer at The Hospital for Sick Children and Dr Peter Szatmari at McMaster University receive $8,920,653 from the Government of Ontario's Global Leadership Round in Genomics and Life Sciences
May 6, 2010: Dr Steve Scherer to lead $50 million genomic medicine program at the University of Toronto's McLaughlin Centre for Molecular Medicine
June 9, 2010: Canadian discovery makes prenatal scan possible, giving parents opportunity for early behaviour therapy, The Globe and Mail
© 2010 Toronto Region Research Alliance