Innovation Anthology

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Program ID: Innovation Anthology #191
Program Date: 12/09/2008
Program Category: Genomics, Health and Medicine

Genetic Variations Influence Autism Spectrum Disorder

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.

Learn more at



  • Canada Foundation for Innovation
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