Investigators seek to trace autism’s genetic architecture
By Bill Snyder
January 22, 2010
Vanderbilt University is participating in a multi-center project, funded by a $17 million federal stimulus grant, to identify the “genetic architecture” of autism.
The researchers will scan the DNA sequences of thousands of people for rare genetic variations associated with autism risk. The project will generate a huge amount of data to “really get at the biological questions,” said James Sutcliffe, Ph.D., who will lead the Vanderbilt contribution.
Autism is a spectrum of developmental disorders characterized by impairments in communication and social interaction, and patterns of repetitive, restricted and stereotyped behaviors. It occurs in up to one in every 150 children in the United States, mainly boys.
Both common and rare variations in many different genes may increase autism risk. Most studies to date have focused on common genetic variation, which causes only slight increases in risk. Emerging data implicate rare variants and specific genes in which they are found, although mutations in these genes may affect only a small number of families.
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