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Canadian-led research is revolutionizing our understanding of autism

by CIFAR Jan 31 / 13

For generations, autism was like an impenetrable black box, mystifying doctors, isolating children and frustrating families.

But Canadian-led research is rapidly changing that. “We’ve cracked open the black box and we’re letting more and more light in,” says internationally renowned geneticist Stephen Scherer, member of CIFAR’s Genetic Networks program. “We’ve made more progress in the last couple of years than in the previous two decades.”

Gene deletion causes autism. Image credit: iStockphoto

Scherer, director of both the University of Toronto McLaughlin Centre and the Centre for Applied Genomics at the Hospital for Sick Children, is spearheading research that is revolutionizing our understanding of autism spectrum disorder (ASD) and may lead to medications to prevent, control or reverse symptoms of the condition. He’ll be speaking about the latest research in a public lecture on Feb. 20 called “Cracking the Autism Enigma.” CIFAR and the Ontario Brain Institute are joining to present the event, with support from Autism Speaks Canada, the largest science and advocacy organization in North America.

Scherer’s team was one of the first in the world to find that while autism has genetic roots, people with ASD don’t have identical mutations in one or a few genes, as was previously assumed. Working with the Autism Genome Project consortium, Scherer discovered that people with autism each have their own personal arrangement of genetic glitches, many of them arising spontaneously, which leads to their own individual form of autism. Scherer’s newest finding, based on unpublished preliminary data, is that 200 to 300 genes are involved.

The Canadian group and their collaborators are now analyzing the genomes of 10,000 families with autism. New and rapidly advancing technology now allows for the complete sequencing of an entire genome in a fraction of the time and cost it took just a few years ago. With the new genome sequencing technology it is possible to identify individuals carrying genetic risk factors for autism, allowing them to be monitored and where relevant enrolled in early intervention treatments.

While various genes are involved, they may be affecting similar developmental trajectories in the brain, and these have the potential to respond to medications. Based on Scherer’s genetic research, experimental drugs for autism are currently being tested in animal and human clinical trials. Scherer says. “There’s been incredible progress in this hugely complex area, and there’s a lot of hope and excitement.”

Following Scherer’s presentation will be a discussion, moderated by Don Stuss, President and Scientific Director of OBI, that will include Dr. Marla Sokolowski, co-director of CIFAR’s Experience-based Brain and Biological Development program and co-director of the University of Toronto’s Fraser Mustard Institute in Human Development, and Dr. Evdokia Anagnostou, clinician scientist at Bloorview Research Institute in Toronto.