Utah Plays Important Role in Autism Research

Oct 30, 2014

As many as a thousand genes may contribute to the risk for autism. That’s according to a new study by the Autism Sequencing Consortium published his week in the journal Nature. In the largest study of its kind, researchers examined DNA samples from more than 14,000 individuals, including several hundred Utah families. The result was that they dramatically expanded the list of genes identified with autism spectrum disorder.

“There’s a lot of complicated genetics going on behind that label, and this study because of its size is beginning to get a handle on that,” says Hilary Coon, professor in the Psychiatry Department at the University of Utah and a member of the Autism Sequencing Consortium.

By casting a wider net, the research team of 37 institutions found that previously unsuspected sets of genes may be involved in Autism Spectrum Disorder risk. Researchers identified more than 100 genes that are mutated in children with autism, and estimate there may be well over 1000. Coon says this is a game-changer for future research.

“What we can do now is go back to especially the very big families that we study in Utah, and look at how these risk genes and risk mutations play out in our big families,” she says. Now, Coon says they can find family members who have the same rare mutations but don’t have autism spectrum disorder, and study why this might occur.

“What maybe genetic protective factors do they have? Or looking at their sibling who does have the diagnosis and trying to figure out, were there difference in environmental exposures between those two siblings? These are really, really exciting opportunities for us,” she says.

Coon says the study will provide avenues of research for many years.