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, MD, chief scientific officer at The Children's Hospital of Philadelphia.
"We are proud to see some of these exciting accomplishments recognised 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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