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Broad Genome Study Increases Understanding of Autism

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While scientists have long known autism is highly hereditary, their challenge has been identifying the genetic factors associated with it. In a recent study, researchers took an important step toward developing a better understanding of this complex neurodevelopmental disorder.

The study uncovered a simple change in the genetic code that is associated with autism, implicating a neuronal gene that has not previously been tied to the disorder. The genetic code is a long chain of four letters (A, C, G and T) in varying sequences that specify genetic information, and researchers found that a particular single-letter change, or mutation, in this code could play an important role in autism. The research highlighted two other regions of the genome which are likely to contain rare genetic differences that may also influence autism risk.

The study was a large multinational collaboration led by researchers at the Broad Institute of Harvard and MIT in Cambridge, Massachusetts, founded in 2003 to use new genome-based knowledge in medical research. Other participants included Massachusetts General Hospital and Johns Hopkins University.

"These genetic findings give us important new leads to understand what's different in the developing autistic brain compared with typical neurodevelopment," said Lauren Weiss, the co-lead author of the study's results, which were published in the October 8 issue of the journal Nature. Weiss, a former postdoctoral fellow at MGH and the Broad Institute, is currently an assistant professor of psychiatry and human genetics at University of California, San Francisco. "We can now begin to explore the pathways in which this novel gene acts, expanding our knowledge of autism's biology."

Support for the study was provided by the Autism Consortium, the Nancy Lurie Marks Family Foundation, NARSAD, the National Center for Research Resources, the National Institute of Mental Health, the Simons Foundation, and others.

Using a Two-Pronged Approach

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