A Powerful New Tool

Preliminary results from the largest-ever autism genome study, published today in the online edition of Nature Genetics, offer promising new avenues of research into autism spectrum disorder (ASD), which affects 1 in 150 children in the United States. The findings, based on an analysis of genetic data from 1,200 families, are significant because they come from the Autism Genome Project (AGP), a consortium of over 120 scientists from 19 countries who joined forces in 2002. The unprecedented collaboration dramatically increased the pool of genetic samples from families with autism, giving researchers a better shot at teasing out possible underlying causes of the disorder. NEWSWEEK's Julie Scelfo spoke with UCLA's Dr. Dan Geschwind, a professor of neurology, psychiatry and human genetics at the David Geffen School of Medicine, who heads the school's chapter of the Autism Genetic Research Exchange (AGRE). Excerpts:

NEWSWEEK: What is the Autism Genetic Research Exchange?
Geschwind: It's the U.S.'s largest and most well annotated pool of genetic data for the study of autism. Cure Autism Now started funding it in 1997, and three or four years ago NIH began funding it as well. Currently, I'm the chief scientific adviser.

Why is AGRE important?
In the past it was difficult for researchers to collect genetic samples from children with autism because it involves extensive psychological testing and drawing blood, which is hard for ordinary folks but especially difficult for kids with autism. The folks at Cure Autism Now, which started AGRE, made it easier by sending a phlebotomist and researcher directly to the home instead of asking families to bring their kids to the hospital. The result was a repository of data scientists like me could use to study the genetic basis of autism.

Why hadn't individual researchers pooled their data before?
The usual model in this field is investigators collect their own data from families and don't share it with other people. There's a reason for that: the way things are funded, investigators have to show their independence, their genius. I don't think that model holds much any more. The future of science is really in large collaborative efforts, like the human genome project. What it does is make samples of data available to people all over the world who couldn't otherwise afford to collect it. It's a very efficient way of doing research.

And the Autism Genome Project expanded the pool of data and scientists worldwide?
The AGP is made up of, basically every group in the world with a significant interest in autism genetics. It's coordinated by Autism Speaks. We meet, combine samples, and do joint analyses. It's large studies like this that are going to help us understand what the genetic architecture and landscape of autism is.

So what are the preliminary findings?
What this shows is that there are rare chromosomal changes, what we call copy number variations, [associated with autism] rather than a single base pair or DNA sequence.