New Studies Finds Genes Related to Brain Cell Connections Linked to Autism

Three different studies have all found genetic factors affecting the risk of autism spectrum disorders. Acting National Institute of Health Director Raynard Kington, M.D., Ph.D. comments: “These findings establish that genetic factors play a strong role in autism spectrum disorder. Detailed analysis of the genes and how they affect brain development is likely to yield better strategies for diagnosing and treating children with autism.”

The studies are genome-wide association studies and collectively are the most comprehensive study of autism genetics to date. These type of studies look for clues about the causes of disorders like autism. Investigators scan the the entire set of DNA, or genome, and search for small differences between people with and without the disorder.

These studies include:

- A study, the largest with over 10,000 subjects,  led by Hakon Hakonarson, M.D., Ph.D., a professor at the University of Pennsylvania School of Medicine and director of the Center for Applied Genomics at The Children’s Hospital of Philadelphia.

- A study led by Margaret Pericak-Vance, Ph.D., a professor at the University of Miami Miller School of Medicine and director of the Miami Institute for Human Genomics.

- A study led by Dr. Hakonarson and Gerard D. Schellenberg, Ph.D., also a professor at the University of Pennsylvania School of Medicine.

The NIH and the The Children’s Hospital of Philadelphia were involved in funding these studies.

Autism spectrum disorders (ASD) caffect 1 in 150 American children. 75% of chidlren with the condition are boys.

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