NEW YORK, N.Y. (June 25, 2009) - Autism Speaks' Autism Genetic Resource Exchange (AGRE) continues to play an integral role in continuing genetic research and new findings in the complex autism inheritance puzzle. In a study published in the June 26 edition of the journal PLoS Genetics, a research team including geneticists from the University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia (CHOP) identified 27 different genetic regions where rare gene variations - missing or extra copies of certain genes - were found in children with autism, but not in the healthy controls. The complex combination of multiple genetic duplications and deletions is thought to interfere with gene function, which can disrupt the production of proteins necessary for normal neurological development.

"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 Maja Bucan, Ph.D., Professor of Genetics at the University of Pennsylvania School of Medicine and the Chair of the Steering committee for AGRE. "We are grateful to families of children with autism spectrum disorders for their willingness to participate in genetic studies because family-based studies have many advantages. We have learned a lot both from genetic analyses of children with autism as well as analyses of their parents and their unaffected siblings."

"AGRE has established a partnership between families and researchers that is changing the landscape of autism genetics by leaps and bounds," said Clara Lajonchere, Ph.D., VP of Clinical Programs and Managing Director of AGRE. "Without the availability of biomaterials and clinical information from thousands of participating families, the field would not be where it is today."

Genetic samples of 3832 individuals from 912 families with multiple autistic children from the AGRE cohort were compared to genetic samples of 1070 neuro-typical children. Among the study findings were key variants on two novel genes, BZRAP1 and MDGA2, thought to be important in synaptic function and neurological development, respectively. The key variants on these genes were transmitted in some, but not all, of the individuals with Autism Spectrum Disorders, demonstrating that there can be genetic differences seen in individuals in families with autism leading researchers to believe that multiple variants, both common and rare, are acting together to cause autism.

Geraldine Dawson, Ph.D., Chief Science Officer for Autism Speaks, in her former capacity at University of Washington, and Clara Lajonchere, Ph.D., VP of Clinical Programs and Managing Director of AGRE are co-authors of the paper.

The Autism Genetic Resource Exchange (AGRE), a program of Autism Speaks, provided genetic biomaterials and clinical data from families that have more than one family member diagnosed with an Autism Spectrum Disorder. AGRE makes data publicly available to qualified researchers worldwide.

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