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New study looking at families with autism to find the guilty genes
Monday, February 19, 2007

The largest genetic study to date of families with autism has revealed new places to look for genes that might contribute to the development of the neurodevelopmental disorder.

A consortium called the Autism Genome Project, consisting of 120 scientists from 50 research centers in 19 countries, gathered information from nearly 1,500 families for the study, which was published online yesterday in Nature Genetics.

"We've put together all these families and then brought the latest in molecular and analytic technology together to try to characterize the genomes of these families," said corresponding author Bernie Devlin, associate professor of psychiatry and genetics at the University of Pittsburgh.

That information is available to the research community on the Web, he added.

"What was generated was a big resource that we hope will expedite autism research in the future," Dr. Devlin said. "That's a start."

The consortium has begun to examine the collected data, and "we have some interesting findings," he said. For example, an examination of submicroscopic chromosomal variations, such as deletions and insertions of genomic material, hints that abnormalities in a certain region of chromosome 11 might contribute to autism and related disorders.

Also, the project suggests that alterations in a gene called neurexin 1, which is involved in communication channels between neurons, or brain cells, may contribute to the disorder.

Other observations echo findings from previously conducted research, Dr. Devlin said.

"If this is real -- and it's looking very exciting -- then we have a big leg up," he said. "You begin to see this whole picture tie together and that, hopefully, will give us a big boost to dissecting the genetics."

The next steps include taking an even closer look at the genomes of affected families, and identifying specific genes, their variations, and their connections to autism, Dr. Devlin said.

Nancy Minshew, director of Pitt's collaborative programs of excellence in autism, called the project "quite a feat." As a consortium member, she helped find families for the study.

"It's an enormous amount of work to get everybody doing exactly the same thing and to get all of the families, to collect all of the same data in exactly the same way," she noted.

As scientists learn more about autism, the pieces start to connect, Dr. Minshew said.

"It's sort of like a puzzle: The more pieces you get, the easier it gets," she said, before adding, "Not that I would call any of this easy. But it's making a whole lot more sense than it ever did before."

And, with the help of families affected by autism who participate in research, the potential for finding new treatments grows.

"You look at a [research] paper like this and you know it's a matter of time," Dr. Minshew said. "It's not whether it's going to happen, it's just a matter of time."

First published on February 19, 2007 at 12:00 am
Anita Srikameswaran can be reached at anitas@post-gazette.com or 412-263-3858.