Tuesday, April 28, 2009

Autism Spectrum Disorder Gene Study

/PRNewswire-USNewswire/ -- A research team has connected more of the intricate pieces of the autism puzzle, with two studies that identify genes with important contributions to the disorder. 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.

"Because other autism researchers have made intriguing suggestions that autism arises from abnormal connections among brain cells during early development, it is very compelling to find evidence that mutations in genes involved in brain interconnections increase a child's risk of autism," said study leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia. He is on the faculty of the University of Pennsylvania School of Medicine, as is his main collaborator, neuroscientist Gerard D. Schellenberg, Ph.D.

"This comprehensive research opens the door to more focused investigations into the causes of autism disorders," said Philip R. Johnson, M.D., chief scientific officer at The Children's Hospital of Philadelphia. "It moves the field of autism research significantly ahead, similar to the way oncology research progressed a few decades ago with the discovery of specific genes that give rise to cancers. Our extensive pediatric genomics program has pinpointed particular genes and biological pathways, and this discovery provides a starting point for translating biological knowledge into future autism treatments." The hospital's Center for Applied Genomics, launched in 2006, is the world's largest facility dedicated to the genetic analysis of childhood di

SOURCE The Children's Hospital of Philadelphia
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