Scientists To Discuss Important Autism Genetics Research Report

Genetics researchers at 50 centers in North America and Europe have published a study in the journal Nature Genetics that examined DNA samples from more than 1,000 families, each with more than one member with an autism spectrum disorder (ASD), with results that researchers said offer "new insights into the genetic basis of autism." Researchers said they found a high number of the families shared the same kind of "chromosomal abnormalities."

The National Public Radio show "Science Friday" plans to discuss this study during its weekly Friday episode on Feb. 23. (More info below.)

According to this summary on the Nature Genetics blog "Free Association," the researchers from the Autism Genome Project Consortium carried out a two-fold analysis:

First they assessed the frequency of alterations in copy number of different segments of the genome, finding an unexpectedly high percentage of the families -- 7 to 12 percent, depending on how the analysis was done -- in which all affected individuals share possibly detrimental chromosomal abnormalities. ... Finally, the authors carried out a 'linkage' analysis of these families, searching for regions of the genome that might be shared by the individuals with ASD. One particular region on chromosome 11 was identified, which has not previously been reported to harbour genes that affect risk of developing autism.

So, to a layperson, what does this mean? First, it provides some important clues for further research. And to judge by the quotes in the British press, autism genetics researchers have been waiting for this kind of clue to guide further inquiries into the genetic basis for autism. This quote, from an article in The Independent, reflects this sense of excitement:

Professor John Burn, Medical Director and head of Institute of Human Genetics, University of Newcastle, said: "This is fantastic news. We have been waiting for the log jam to break on this for several years. There will almost certainly be an interaction between several genes so this one discovery doesn't provide a complete answer but it could be a key step in development for effective treatments as it provides a target for drug development."

Second, there's more information tailored for non-scientists to come. National Public Radio's "Science Friday" show on February 23 plans to discuss this study. You can read a preview of the show here. If you can't listen in live to your NPR station (or you can't get NPR where you live), a recording of the show will be made available on the web.

More information:

• You can see a one-paragraph abstract of the article, "Mapping autism risk loci using genetic linkage and chromosomal rearrangements" (available to subscribers only, or available for purchase) by going to the Nature Genetics website here. It's worth noting that the list of contributors to the study cites 67 institutes and research sites.
  

• Other news coverage includes this piece from the BBC, "Autism gene breakthrough hailed."

• Find background information on the Autism Genome Project, a public-private research consortium established in summer 2004, here at a website set up by the National Association for Autism Research (NAAR). One year ago, NAAR merged with Autism Speaks, a development described here.