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Autism Speaks' Autism Genetic Resource Exchange (AGRE) Continues to Support Genetic Research and Findings

Latest Study Using AGRE Data Identifies Combination of Inherited and New Genetic Mutations Linked to Autism Risk

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.

To learn more about the Autism Genetic Resource Exchange (AGRE), please visit

About Autism
Autism is a complex brain disorder that inhibits a person's ability to communicate and develop social relationships, and is often accompanied by behavioral challenges. Autism spectrum disorders are diagnosed in one in 150 children in the United States, affecting four times as many boys as girls. The prevalence of autism has increased tenfold in the last decade. The Centers for Disease Control and Prevention have called autism a national public health crisis whose cause and cure remain unknown.

About Autism Speaks
Autism Speaks is the nation's largest autism science and advocacy organization, dedicated to funding research into the causes, prevention, treatments and a cure for autism; increasing awareness of autism spectrum disorders; and advocating for the needs of individuals with autism and their families. Autism Speaks funds more than $30 million each year in new autism research, in addition to supporting the Autism Treatment Network, Autism Genetic Resource Exchange, Autism Clinical Trials Network, Autism Tissue Program and a range of other scientific and medical programs. Notable awareness initiatives include the establishment of the annual United Nations-sanctioned World Autism Awareness Day on April 2 and an award-winning, multi-year national public service advertising campaign with the Ad Council. Autism Speaks' family services efforts include the Autism Video Glossary, a 100 Day Kit for newly-diagnosed families, a School Community Tool Kit and the distribution of community grants to local service providers. Its government relations department, through its Autism Votes initiative, has played a critical role in securing federal legislation to advance the federal government's response to autism, and has successfully advocated for insurance reform to require insurers to cover medically-necessary autism therapies. Each year, Autism Speaks Walk Now for Autism fundraising events are held in more than 70 cities across the country, as well as Canada and the United Kingdom. To learn more about Autism Speaks, please visit

About the Co-Founders
Autism Speaks was founded in February 2005 by Suzanne and Bob Wright, the grandparents of a child with autism. Bob Wright is Senior Advisor at Lee Equity Partners and served as vice chairman, General Electric, and chief executive officer of NBC and NBC Universal for more than twenty years. He also serves on the board of directors of the Polo Ralph Lauren Corporation and RAND Corporation. Suzanne Wright has an extensive history of active involvement in community and philanthropic endeavors, mostly directed toward helping children. She serves on the boards of several non-profit organizations and is also Trustee Emeritus of Sarah Lawrence College, her alma mater. To learn more about Autism Speaks, please visit