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Elizabeth Cooney is a health reporter for the Worcester Telegram & Gazette.
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Wednesday, October 24, 2007
Boston group to share genetic data on autism
A Boston group is sharing genetic information from families affected by autism with other researchers to promote understanding of the developmental disorder.
The Autism Consortium, whose members include hospitals, medical schools and universities in the Boston area, will transfer profiles of 500,000 genetic variations found across the genomes of 700 families with two or more children who have autism. The data will be held by the Autism Genetic Resource Exchange, a program of the advocacy organization Autism Speaks. Scientists can apply to the exchange, which gathered DNA from the families. The samples have been scanned for sequences where there are deletions or extra copies of DNA segments. The consortium is sharing the genetic variations it found.
"We returned all of the raw data to AGRE so they can distribute it to any other investigtors who want to begin exploring what may be the genetic underpinnings of autism," Mark Daly, a consortium member from Massachusetts General Hospital and the Broad Institute of MIT and Harvard, said in an interview. "Understanding the genetics underlying a complex disease is not an easy problem to solve. So there's no excuse for hoarding your data when much more can be learned by sharing."
Only a small percentage of autism arises from a recognizable genetic cause, such as Fragile X syndrome, Daly said. Recent research suggests that some families with autism might have higher rates of genomic abnormalities, but very few of these abnormalities have been conclusively identified.
"There's very strong heritability to autism but very little of the heritability has been explained by specific mutations of specific genes," he said. "What we hope is that this data is a starting point. We need to perform collaborative research in the spirit of the Human Genome Project to deliver on the trust the public has placed in us."
Members of the Autism Consortium are Beth Israel Deaconess Medical Center, Boston Medical Center, Boston University, Boston University School of Medicine, the Broad Institute of MIT and Harvard, Cambridge Health Alliance, Children’s Hospital Boston, Harvard University, Harvard Medical School, Massachusetts General Hospital, Massachusetts Institute of Technology, McLean Hospital and Tufts-New England Medical Center.