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27 More Pieces Added to Large, Complex Genetic Puzzle of Autism

July 14, 2009 - 7:46am 406 reads 0 comments

(Great Neck, N.Y. - July 09, 2009) — NARSAD 2006 Distinguished Investigator Maja Bucan, Ph.D., was co-author of a study that identified 27 different genetic regions where rare copy number variations -- missing or extra copies of DNA segments -- were found in the genes of children with autism spectrum disorders (ASDs), but not in healthy controls.

The research was conducted by a team from the University of Pennsylvania School of Medicine, the Children's Hospital of Philadelphia and several other collaborating institutions and reported on June 26 in the journal PloS Genetics.

“We are finding that both inherited and new, or de novo, genetic mutations are scattered throughout the genome, and it is becoming clear that different combinations of these variations contribute to autism susceptibility,” said Dr. Bucan, a genetics professor at the University of Pennsylvania School of Medicine and chair of the steering committee for the Autism Genetic Resource Exchange, (AGRE), a program of the organization Autism Speaks, in which families of children with autism spectrum disorders participate in genetic studies.

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