Autism researchers make huge step in discovering genetic mutations that may lead to the disorder

By Kate Allen

Autism researchers make huge step in discovering genetic mutations that may lead to the disorderGenome research has been a boon for unravelling the mysteries surrounding autism, allowing scientists to identify around 100 altered genes associated with the neurodevelopmental disorder.

But genome research has also compounded the puzzle of autism. Those who display the symptoms of autism spectrum disorder (ASD) may carry the same number of genetic mutations as their unaffected siblings. One person with ASD will carry mutations totally different from the next, and half of those diagnosed will have none of the known mutations at all.

“There are no common patterns,” says Stephen Scherer, director of the Hospital for Sick Children’s Centre for Applied Genomics.

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By examining a different part of the genome than previously studied, a team of scientists led by Scherer has created a “formula” for determining which mutations are likely to lead to ASD and which are not. In the process, they also flagged more than 1,600 genes not previously linked to autism that may hold new clues for discovering what causes the disorder that now affects 1 in 68 children.

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