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Children’s Hospital Boston, with the Broad Institute and Harvard Medical School, has been awarded a Grand Opportunity grant from the National Institute of Mental Health to pursue whole-genome sequencing of patients with autism. The roughly $4.5 million grant, part of the federal stimulus package, officially started September 30.
The research team, led by Christopher Walsh, MD, PhD, chief of genetics at Children’s, will use new technologies for rapid DNA sequencing, coupled with advanced informatics, to better understand autism’s genetic causes. The project will first focus on 85 previously identified Middle Eastern patients whose parents share common ancestry and who have recessive forms of autism. These patients make good initial subjects for study because linkage studies have already narrowed down the field of candidate genes. As techniques are refined, Walsh and colleagues will be able to perform and interpret genetic sequence information from other groups of autism patients. "Within a year or two, we hope to have developed technology and informatics that should be helpful to study anyone with autism," Walsh predicts.
The first phase of the study will analyze the "exome"—the 2 percent of the genome that directly codes for proteins. The second phase will sequence and analyze the entire genome in patients whose genetic cause still remains a mystery—including the so–called "junk" DNA, which may contain critical switches that control gene activity. Timothy Yu, MD, PhD, in the Walsh Lab will be heading up the informatics part of the project.
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