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Gene Findings in Autism, Blindness at Children's Hospital Top National Lists of Medical Advances in 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.

Discover magazine, covering the 100 top science stories of 2009 in its Jan./Feb 2010 issue, cited the autism study in its #1 article, "Vaccine Phobia Becomes a Public Health Threat." In the context of the belief, unsupported by research, that vaccines cause autism, it noted that "scientists have made notable progress in understanding autism," and referred to the study led by Dr. Hakonarson. The same article quoted nationally known vaccine expert and author, Paul Offit, M.D., chief of Infectious Diseases at Children's Hospital, noting that current research is evolving quickly in uncovering the true causes of autism.

The same issue of Discover also lauded the LCA gene therapy clinical trial as an example of the "remarkable turnaround" in the fortunes of gene therapy in an article titled, "The Age of Genetic Medicine Begins."

The weekly journal, Science, took a similar approach in its brief news article in its Dec. 18 issue, "Gene Therapy Returns." It pointed out that children in the LCA trial "gained enough vision to play sports and stop using learning aids at school." Science has an annual news feature, Breakthrough of the Year (this year the discovery of the fossil, Ardipithecus ramidus, a human ancestor) and the multiple successes of gene therapy were counted among the runners-up.

Finally, Time magazine cited the autism gene study among its top 10 medical breakthroughs, published on the magazine's website on Dec. 8. Under "New Research in Autism," Time noted that the study represented a possible genetic clue to the recent rise in ASD cases reported in the U.S.

About The Children's Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 441-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit

    Contact: Joey McCool Ryan
    The Children's Hospital of Philadelphia
    Phone: 267-426-6070

SOURCE The Children's Hospital of Philadelphia

SOURCE The Children's Hospital of Philadelphia
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