50 Reasons to Love Toronto: No. 33, SickKids is closer to curing autism
Autism has been blamed on satanic possession, vaccines and frosty moms, but scientists have known since the 1980s that genetics have something to do with it. What they didn’t know was exactly which genes are involved. Stephen Scherer, the director of the Centre for Applied Genomics at SickKids and co-leader of a multi-million-dollar international study of autism genes, has brought us amazingly close to decoding the complicated disorder.
Scherer suspected that the search for a common, autism-causing genetic mutation was pointless; after all, the people afflicted tend not to reproduce. Perhaps, he thought, mutations arise spontaneously. High-resolution genome scanning substantiated his theories: people with autism carry a greater number of variants and also carry their own unique genetic form of the disorder. (“They’re like snowflakes,” says Scherer.) So far, his team has found that a dozen or so susceptibility genes are definitively involved in the development of autism and another 100 or so are showing strong evidence of involvement.
Because of Scherer’s discovery, it may soon be possible to screen children at risk for autism—those whose siblings have already been diagnosed, for instance—long before symptoms arise. With early identification, intervention can begin in infancy, when speech and social therapies can positively affect critical brain development.
When autism was first identified in 1943, it was assumed to be an extremely rare condition. Today, with increased public awareness and improvements in diagnosis, nearly one in 100 kids are thought to have some form of the disorder. Scherer’s discovery will also enable drug manufacturers to target their research at specific neurological processes and hopefully develop drugs for treating autism. The need couldn’t be more urgent.