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The newspaper of The Johns Hopkins University November 12, 2007 | Vol. 37 No. 11
Johns Hopkins Researchers Release Raw Genotype Data on Autism

By Audrey Huang
Johns Hopkins Medicine

Researchers at Johns Hopkins' McKusick-Nathans Institute of Genetic Medicine have released newly generated genetic data to help speed autism research. The Johns Hopkins data, coordinated with a similar data release from the Autism Consortium, aims to help uncover the underlying hereditary factors and speed the understanding of autism by encouraging scientific collaboration. These data provide the most detailed look to date at the genetic variation patterns in families with autism.

"Autism is a difficult enough genetic mystery for which we need all of the best minds and approaches to help unravel the role of genes in this neuropsychiatric illness," said Aravinda Chakravarti, director of the Center for Complex Disease Genomics at Johns Hopkins.

Chakravarti and his team analyzed whole genomes from 1,250 autistic individuals, their siblings and parents; these samples were collected across the United States by many researchers under the aegis of the National Institute of Mental Health, part of the National Institutes of Health.

Mark Daly, who has collaborated with Chakravarti for many years, is a senior associate member of the Broad Institute of MIT and Harvard, and is part of the Autism Consortium that released data acquired similarly from 3,000 individuals who are either affected by autism spectrum disorders or are family members of individuals with autism. Daly said that the consortium was releasing raw genotype data so that other qualified researchers could take a look at it even as his group was beginning its own analysis.

"It is really something of a landmark to have pre-publication data from our laboratories available to autism researchers," Chakravarti said. "We are doing so in the spirit of the human genome project, where such data releases were critical to progress long before final results were available. We are carefully looking at our collaborative findings as we continue to search for definitive information about which genes are important in causing autism spectrum disorders," he said. "We hope to identify the most likely candidates over the next few months."

The number of individuals diagnosed with autism spectrum disorders, which impair thinking, feeling, language skills and the ability to relate to others, has significantly increased in recent years. Although there is some uncertainty about the role that better recognition and diagnosis of disorders, as well as biological and environmental factors, plays in this rise in incidence, there is growing evidence that genes contribute significantly. The release of the data from this screen is a significant step toward identifying those genes.

"Autism spectrum disorders are extremely complex, and only through collaboration with researchers with many specialized areas of expertise will we gain an understanding of what makes some children susceptible," Daly said.

Thomas Insel, director of the National Institute for Mental Health, said, "[The] release of genetic and phenotypic data on autism marks a significant achievement for the autism research community. Progress in finding the causes of and cures for autism spectrum disorders rests in large part on improving the rapid access and sharing of data and resources."


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Aravinda Chakravarti


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