CHOP scientists help identify "autism genes"

April 28, 2009 10:58:42 AM PDT
Three new studies, including the largest ever conducted on the genetics of autism, have identified genes which contribute to the disorders. One study pinpoints a gene region that may account for as many as 15 percent of autism cases, while another study identifies missing or duplicated stretches of DNA along two crucial gene pathways. Significantly, both studies detected genes implicated in the development of brain circuitry in early childhood. The study leader, Dr. Hakon Hakonarson, of Children's Hospital of Philadelphia, used automated genotyping tools that scan the entire genome of thousands of individuals. The researchers found that children with ASDs were more likely than healthy controls to have gene variants on a particular region of chromosome 5. Hakonarson's second study also used genetic scans to identify copy number variations, deletions, or duplications that increase the risk of an Autism Spectrum Disorder. The gene discoveries correspond with evidence gathered from functional magnetic resonance imaging that children with autism may have reduced connectivity between brain cells. Anatomy studies have also found that children with autism may have abnormal development of the brain's frontal lobes. Doctors hope the gene findings will not only open the doors to better understanding the brains and behaviors involved in autism, but to more targeted treatment and therapy. Autism Speaks assisted in the research, both with funding, and with access to the DNA of thousands of children affected by autism. The Centers for Disease Control estimates that one out of every 166 U.S. children has autism spectrum disorder.

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