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MIT, Broad Institute join Autism Consortium's Gene Discovery Project

The Autism Consortium, a scientific and clinical collaboration involving 11 Boston-area institutions dedicated to research leading to breakthroughs for autism, today announced the initiation of the first comprehensive genetic association study to examine the entire human genome related to autism.

For the first time ever, the Autism Gene Discovery Project brings together new genetic analysis technology with the patient samples and experts to conduct a comprehensive research effort to definitively identify the set of genes that cause autism. The project will be initiated this month.

Autism spectrum disorders (ASDs) are a group of developmental disabilities defined by significant impairments in social interaction and communication and the presence of unusual behaviors and interests. Autism occurs in all racial, ethnic and socioeconomic groups and is four times more likely to occur in boys than girls. 

While the clinical evidence is increasingly clear that genes play an important role in autism, definitive links to specific genes contributing to autism have not been fully elucidated. Family studies have indicated a strong genetic contribution to autism, including observations that siblings of autistic children are 10 to 60 times more likely to be autistic. The inheritance pattern is complex and suggests that a number of genes are involved, but studies to date have not been large enough to discover the specific genes that produce susceptibility to the disorder.

The Autism Consortium brings together more than 60 scientists and clinicians, including some from the Broad Institute and MIT. Eric Lander, Broad founding director and MIT professor of biology, serves on the consortium's scientific advisory board. Mriganka Sur, head of the Department of Brain and Cognitive Science and Sherman Fairchild Professor of Neuroscience, serves on the consortium's executive committee, which is charged with setting the interdisciplinary, inter-institutional consortium's research priorities.

The Gene Discovery Project brings together new genetic analysis technology, one of the largest collections of biological samples of autistic children, and experts to conduct the research. Resources include:

  • New analytic technology from Affymetrix, the GeneChip® Human Mapping 500K Array, which now enables the comprehensive measurement of polymorphisms and gene copy number in DNA samples of children with autism.
  • 3,700 samples provided by the Autism Genetic Resource Exchange (AGRE), a DNA repository and family registry for autism sponsored by the Cure Autism Now Foundation.
  • Experts from the Autism Consortium, who will conduct the research in collaboration with the Broad Institute of MIT and Harvard.

The project will begin within a month, and the Autism Consortium hopes to have data available from the Autism Gene Discovery Project within six months to contribute to the field of genetic research related to autism. The database of results will be made publicly available to anyone conducting research in the field of autism.

The Broad Institute of MIT and Harvard will be performing the genotyping and will join scientists from the Autism Consortium to perform genetic analyses.

"We are thrilled to be working with the Autism Consortium to uncover the genetic contributions to this devastating disease, "said Dr. Mark Daly of Massachusetts General Hospital's Center for Human Genetic Research and Broad's Program in Medical and Population Genetics. "This study, along with a smaller ongoing effort at Johns Hopkins led by Dr. Aravinda Chakravarti using the same technology, will provide dramatic new opportunities for gene discovery by creating a reference data set for the entire research community."

About the Autism Consortium

The Autism Consortium is dedicated to facilitating the advancement, understanding and treatment of autism and related developmental brain disorders. The Autism Consortium brings together scientists and clinicians interested in developmental brain disorders at Beth Israel Deaconess Medical Center, Boston University and Boston University Medical Center, the Broad Institute of MIT and Harvard, Cambridge Health Alliance, Children's Hospital Boston, Harvard University and Harvard Medical School, Massachusetts General Hospital, Massachusetts Institute of Technology and Tufts-New England Medical Center-Floating Hospital for Children.

The Autism Consortium serves as an umbrella entity that facilitates, directs and funds the collaborative work conducted by its member scientists and clinicians to advance research on autism.

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