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by  /  27 April 2012

“Last time I gave a talk here, it was kind of a downer,” said Matthew State, co-director of the Yale Neurogenetics Program, addressing a room full of autism researchers who had gathered at an idyllic lakeside meeting center in Switzerland earlier this week.

Sponsored by pharmaceutical giant Roche in partnership with the journal Nature Medicine, the Translational Neuroscience Symposium first convened three years ago, where State had described “how much trouble we had doing targeted sequencing of one gene.”

“We’ve hit a tremendous tipping point with respect to genetics,” said State.

So little was known about the genetics of idiopathic autism — cases whose cause is unknown — in 2009 that the conference then focused for the most part on rare single gene disorders that are linked to autism, such as fragile X and Rett syndrome, “because we had no way to interrogate idiopathic autism,” said State.

Researchers aim to do the same for the recently identified genes that have been linked to the more common forms of autism. “We now have animal models with the same genetic deficits as humans and with a full set of symptoms, from the molecular changes to behavior,” said Luca Santarelli, head of neuroscience at Roche.

Despite the rapid advances, the field still faces immense challenges. Conference speakers in 2009 noted that the diversity of autism was one of the major hurdles to understanding the disorder and developing treatments. But they had yet to glimpse the sheer magnitude of that heterogeneity. Researchers now estimate that 350 to 1,000 genes are involved in the disorder, based on the results of exome sequencing studies published this month. “If we knew that at that point, we might have stopped,” joked State.

Sometimes it’s best not to see the size of the mountains that lie ahead.

For more reports from the 2012 Roche Translational Neuroscience Symposium, please click here.