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Discovery of New Genetic Model for Autism may Speed Up Research by Years

NEW YORK, NY (July 25, 2007) -- Only three months after its launch, the Interactive Autism Network (IAN) has been cited in its first major research publication. A team of researchers, led by Cold Spring Harbor Laboratory (CSHL) and Albert Einstein College of Medicine, has published a paper in the July 31, 2007 issue of Proceedings of the National Academy of Sciences which describes a unified genetics model that predicts two different risk patterns for autism. The model is based on earlier evidence that identified spontaneous mutations, new mutations in the germ line of a parent, as occurring more frequently in families with no known history of autism as compared with families where there is a clear pattern of genetic transmission.

Spontaneous mutations occur with equal frequency in males and females and can be transmitted to their children at conception. These mutations increase with age and can often affect the germ lines of older parents. Furthermore, since autism is 4 times more likely to affect male offspring, it is likely that these mutations are more likely to affect female carriers who themselves may be unaffected but who then have a 50% chance of transmitting these mutations to their children. Since females seem to be more resistant to these mutations, males are disproportionately affected.

Researchers examined data across three existing databases to determine autism risk, two of which are nationwide resources, the Autism Genetic Resource Exchange (AGRE) and the Interactive Autism Network (IAN). They found that the majority of autism cases may be the result of new spontaneous mutations occurring in the germ lines of females who have no family history of autism (low risk families) and who themselves may be unaffected. These carriers then marry and transmit the mutation to their sons in a dominant fashion. These researchers observed these patterns across all three databases, each of which provided a unique sample set.

“Having access to diverse sets of data from AGRE and IAN was critical to my team's evaluation, and provided a built-in way to replicate the study findings” said Dr. Michael Wigler of Cold Spring Harbor Laboratory, primary author of the paper. “Since the population data in AGRE was acquired by a different mechanism than that in IAN, it was extremely reassuring to observe the same mathematical pattern in both data sets,” he added.

“This model offers new ways of thinking about genetics”, said Dr. Clara Lajonchere, Vice President for Clinical Programs at Autism Speaks and co-author on this paper. “It provides a framework that integrates some key findings in the literature. This research will set the stage for more thorough examinations of some potential environmental factors that may be at play.”

The full citation of the paper being published in the July 31, 2007 print edition of the Proceedings of the National Academy of Sciences is entitled A Unified Theory for Sporadic and Inherited Autism.

Autism is a complex brain disorder that inhibits a person's ability to communicate and develop social relationships, and is often accompanied by extreme 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 diagnosis 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.

Autism Speaks is dedicated to increasing awareness of autism spectrum disorders, to funding research into the causes, prevention, treatments and cure for autism, and to advocating for the needs of affected families. It was founded in February 2005 by Suzanne and Bob Wright, the grandparents of a child with autism. Bob Wright is Vice Chairman, General Electric, and served as chief executive officer of NBC for more than twenty years. Autism Speaks has merged with both the National Alliance for Autism Research (NAAR) and Cure Autism Now (CAN), bringing together the nation's three leading autism advocacy organizations. To learn more about Autism Speaks, please visit