Putting Together the Pieces of the Autism Puzzle

Probing the genetic basis of autism spectrum disorder is providing loads of data about the condition, and hope to families with a diagnosis.

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When autism was first described, what we knew about the disorder was based on technologies that are now limited and outdated. Modern methods can probe more deeply into the genes behind autism, and this information is providing more families with answers, and giving researchers new targets for treatment.

“Autism spectrum disorder is a common neurodevelopmental disorder that was characterized by two core symptoms: repetitive and restrictive behaviours, and social communication deficits,” says Ada Chan, graduate student at the University of Toronto.

Geneticist Stephen Scherer, professor of molecular genetics at the University of Toronto, likens modern genomics tools to telescopes; in the same way that telescopes allow us to look deep into the universe, genome-wide microarrays give researchers a way to look more deeply into the DNA that provides the blueprint for the cell. He uses them to scan for genetic information at much higher resolution than was previously possible.

“Once we did that, we had explanations for 10 percent of the families, why autism was coming about in their children,” says Scherer. “Just a year before that we didn’t have those answers.”

“It’s really important to have good data and make sure that we report genetic findings about autism, that we’re really confident about these so that families are appropriately informed about what’s going on,” adds Chan.

Now that the genes that cause autism have been identified, there are opportunities for earlier diagnosis and intervention. The potential for genetic research goes beyond giving families explanations, opening pathways to tailor medical treatment.

“There’s no medicine currently available to treat the core features of autism,” says Scherer. “But now that we’ve identified these genes, we immediately know which proteins are involved. So we have targets for medicine development, and that’s happening now. There are clinical trials ongoing with new medicines based on genetic discoveries that target specific forms of autism.”

But for Scherer, studying the genetics of autism has implications for everyone, because it opens a window into how genetics of brain development in general.

“Autism is a genetic condition,” says Scherer. “It captures the essence of what makes us human, why we communicate, how we socially interact, how we think. Studying individuals with autism, the goal is to help them, help their families, but also to better understand humans and what makes us tick.”

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Stephen Scherer holds the GlaxoSmithKline-Canadian Institutes of Health Research Endowed Chair in Genome Sciences at The Hospital for Sick Children (SickKids) and University of Toronto (U of T) and he is Director of the U of T McLaughlin Centre, as well as The Centre for Applied Genomics at SickKids.

His team contributed to the landmark discovery of global gene copy number variation (CNV) as a common form of genetic variation in human DNA. His group then identified CNV to contribute to the aetiology of autism and many other disorders, and the Database of Genomic Variants he founded facilitates hundreds of thousands of clinical diagnoses each year.

His research is documented in over 500 peer-reviewed publications and he is one of the most highly-cited scientists in the world. Dr. Scherer has won numerous honours such as the Steacie Prize, a Howard Hughes Medical Institute Scholarship, the Premier’s Summit Award for Medical Research, the Killam Prize, and three Honorary degrees. He is a distinguished Fellow of the Canadian Institute for Advanced Research, the American Association for the Advancement of Science, and the Royal Society of Canada.

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