Innovation Anthology #191:
One of Canada’s foremost geneticists is Dr. Stephen Scherer.
His lab at the Toronto Hospital for Sick Children has made great strides in understanding the genetics behind diseases like autism spectrum disorder.
Dr. Scherer has recently discovered something he calls “copy number variations” that accounts for at least 10 percent of autism cases.
DR. STEPHEN SCHERER: Previously we thought that all of the genes we had were present essentially in two copies. You would inherit one copy from your mother and one copy from your father. But using some new technology that allow us to look at the DNA sequences at a much higher resolution, we found that’s not always the case. In fact, in many instances, some genes are present in only one copy or there may be three copies, or no copies. And when we looked at the DNA of autistic individuals, in about ten percent we found that they had these specific copy number variations, and they were involving genes that are involved in how brain cells or neurons communicate with each other.
Dr. Scherer says this exciting find brings scientists much closer to revealing real the cause of autism.
Thanks today to the Canada Foundation for Innovation.
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I’M CHERYL CROUCHER
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Canada Foundation for Innovation
The Canada Foundation for Innovation (CFI) is an independent corporation created by the Government of Canada to fund research infrastructure—state-of-the-art equipment, laboratories, databases, and the buildings necessary to conduct research. The CFI’s mandate is to strengthen the capacity of Canadian universities, colleges, research hospitals, and non-profit research institutions to carry out world-class research and technology development that benefits Canadians.
Since its creation in 1997, CFI investments in research infrastructure have lead to breakthroughs in areas such as health, natural resources, information and communications technology, energy, and the environment.
La Fondation canadienne pour l’innovation (FCI) est un organisme autonome créé par le gouvernement du Canada pour financer l’infrastructure de recherche—l’équipement de pointe, les laboratoires, les bases de données de même que les bâtiments nécessaires pour mener des travaux de recherche. Le mandat de la FCI est de renforcer la capacité des universités, des collèges et des hôpitaux de recherche, de même que des établissements de recherche à but non lucratif du Canada de mener des projets de recherche et de développement technologique de calibre mondial qui produisent des retombées pour les Canadiens.
Depuis la création de la FCI en 1997, les investissements qu’elle a faits dans l’infrastructure ont mené à des percées dans des domaines tels que la santé, les ressources naturelles, les technologies de l’information et des communications, l’énergie et l’environnement.
Program Date: 2008-12-09