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Top medical advances in 2009 | The largest-ever genetic study of autism spectrum disorders and a remarkable success for gene therapy
in reversing inherited blindness have made it to the list of top scientific achievements in 2009, according to three US publications: Time magazine, Discover magazine
and the journal Science. Both the studies were conducted at The Children's Hospital
of Philadelphia. "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)
identified DNA variations that account for as many as 15 percent of all ASD cases.
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. 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." 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." Finally, Time magazine cited the
autism gene study among its top 10 medical breakthroughs. |
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