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Autism genome project identifies genetic variants that may make people susceptible to disorder
Date:6/9/2010

SALT LAKE CITY An international consortium of researchers from more than 70 universities, including the University of Utah, has reported that a study of nearly 2,300 people supports the growing consensus that autism is caused in part by rare genetic changes called copy number variants (CNVs).

The study findings, constituting the results of the second phase of the Autism Genome Project (AGP), were published in Nature on June 9, 2010. The study also identifies several new genes and pathways that appear to contribute to the susceptibility to autism and related autism spectrum disorders (ASDs). Autism Speaks, an autism science and advocacy organization, is a major sponsor of the AGP.

Hilary Coon, Ph.D., a lead author on the study and research professor of psychiatry at the University of Utah School of Medicine, said while research shows scientists are making progress in understanding the causes of autism, it is increasingly clear that autism is a multifaceted disorder with both genetic and environmental causes. "We are whittling away at it," Coon said. "But a brain-related disorder, such as autism, is amazingly complex. It's not really one entity."

Autism is a neurobiological disorder that inhibits a person's ability to communicate and develop social relationships, and is often accompanied by behavioral challenges. Autism spectrum disorders are diagnosed in one in 110 children in the United States, affecting four times as many boys as girls. The prevalence of autism increased 57 percent from 2002 to 2006. The Centers for Disease Control and Prevention have called autism a national public health crisis whose cause and cure remain unknown.

The researchers enlisted 996 people with autism and 1,287 without the disorder including participants from more than180 Utah families. The study focused on more than 100 genes previously implicated in ASD and intellectual disability, and found that those with autism carried a higher number of
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Contact: Phil Sahm
phil.sahm@hysc.utah.edu
801-581-2517
University of Utah Health Sciences
Source:Eurekalert

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