Unraveling the Genetics of Autism

A request to describe a typical child with Autism Spectrum Disorder (ASD) is like asking for the impossible. While one may have trouble socializing but excels in school, another's most noticible characteristics may be that he can't speak and flaps his hands repetitively. The complexities of ASD, a series of closely related disorders, has made it difficult to understand the causes of its symptoms.

With a SFARI grant from the Simons Foundation, teams led by Hilary Coon, Ph.D., research professor of psychiatry, and Gabor Marth, D.Sc., professor of human genetics and co-director of the USTAR Center for Genetic Discovery, are searching whole genome sequences of hundreds of families, including families in the Utah Population Database, for genetic changes that contribute to specific ASD symptoms and associated medical conditions. The collaborative team - with experts in autism genetics, bioinformatics, statistical genetics and genomics - will use leading edge, software developed at the USTAR Center for Genetic Discovery to search for all types of changes, including those that do not obviously affect the function of genes.

The innovative project design may allow researchers to uncover factors that protect individuals from autism as well those that contribute to the disorder.

Searching for changes that contribute to ASD symptoms