More Autism Genes Discovered: Putting Together the Pieces of the Puzzle

April 30, 2009

A research team at the Center for Applied Genomics at The Children�s Hospital of Philadelphia has �connected more of the intricate pieces of the autism puzzle, with two studies that identify genes with important contributions to the disorder.�

A research team at the Center for Applied Genomics at The Children’s Hospital of Philadelphia has “connected more of the intricate pieces of the autism puzzle, with two studies that identify genes with important contributions to the disorder.” In fact, one study may have located a gene region that could be responsible for as much as 15% of autism cases, and another study has identified “missing or duplicated stretches of DNA along two crucial gene pathways." One of the two studies is actually “the first to identify common genetic variants associated with autism.”

According to the research team, these discoveries are major breakthroughs in terms of studying autism. Philip R. Johnson, MD, chief scientific officer at The Children's Hospital of Philadelphia, said that “This comprehensive research opens the door to more focused investigations into the causes of autism disorders. It moves the field of autism research significantly ahead, similar to the way oncology research progressed a few decades ago with the discovery of specific genes that give rise to cancers. Our extensive pediatric genomics program has pinpointed particular genes and biological pathways, and this discovery provides a starting point for translating biological knowledge into future autism treatments.”

It certainly helps that the Children’s Hospital of Philadelphia has the largest facility dedicated to the genetic analysis of childhood disease. The research team also collaborated with more than a dozen organizations, most notably the Autism Genome Project. The studies appear in the April 28 edition of the journal Nature.

To read the first study, “Common genetic variants on 5p14.1 associate with autism spectrum disorders,” visit http://dx.doi.org/10.1038/nature07999.

To read the second study, visit http://dx.doi.org/10.1038/nature07953.

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