A research associate inspects robotic equipment during the DNA labeling process.
(Credit: The Children's Hospital of Philadelphia)
ScienceDaily (Apr. 29, 2009) — 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.
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