Quickhit: new discoveries on the genetics of autism

From the science journal Nature: Rare genetic variants linked to autism – June 09, 2010

The search for the genetic underpinnings of autism spectrum disorder has just yielded a new set of clues. In the largest study to date, the Autism Genome Project consortium reports that people with autism have more copy number variants – segments of DNA that have been either duplicated or deleted – in their genes.

The results, published today in Nature, could eventually be used to develop quick diagnostic tests. The consortium was also able to group some of the affected genes into biochemical pathways. These pathways – some of which are clearly linked to brain function — may then become attractive targets for those who hope to develop drugs to treat the condition.

Categories: Science


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