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Gene Findings in Autism, Blindness at Children's Hospital Top National Lists of Medical Advances in 2009
Date:12/22/2009

PHILADELPHIA, Dec. 22 /PRNewswire-USNewswire/ -- A landmark autism study and a dramatic success for gene therapy in reversing inherited blindness, both at The Children's Hospital of Philadelphia, were recognized among the top scientific achievements in 2009, according to three national publications: Time magazine, Discover magazine and the journal Science.

"Our researchers and physicians are pushing the boundaries of biomedical knowledge, and advancing care for children worldwide," said Philip R. Johnson, M.D., chief scientific officer at The Children's Hospital of Philadelphia. "We are proud to see some of these exciting accomplishments recognized in a broad public forum."

The largest-ever genetic study of autism spectrum disorders (ASDs), led by Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia, identified DNA variations that account for as many as 15 percent of all ASD cases. Pinpointing a gene region that affects how brain cells connect with each other in early childhood, the study appeared in April in the journal Nature.

In October, researchers from the Center for Cellular and Molecular Therapeutics (CCMT) at Children's Hospital and from the University of Pennsylvania School of Medicine reported in The Lancet that they used a single injection of gene therapy to improve vision in five children and seven adults with Leber's congenital amaurosis (LCA), a rare form of inherited blindness. Six of the patients improved enough to no longer be classified as legally blind, with the best results occurring in the children. The study leaders were Katherine A. High, M.D., (co-first author and director of the CCMT) from Children's Hospital; Jean Bennett, M.D., Ph.D., senior author, from Penn; and Albert M. Maguire, M.D., (co-first author), from Penn and Children's Hospital.

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SOURCE The Children's Hospital of Philadelphia
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