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Hunting for DNA: Piecing together autism’s genetic puzzle

| | July 11, 2017

It’s been 10 years since Michael Wigler had a breakthrough revelation in autism genetics…[when he] reported that ‘de novo’ mutations — those that arise spontaneously instead of being inherited — occur more often in people with autism than in typical people.

So how much of autism’s genetic architecture have scientists uncovered? Current estimates suggest that rare mutations, whether de novo or inherited, contribute to the condition somewhere between 10 and 30 percent of the time.

The large increase in diagnoses in recent decades “overwhelmingly” reflects cases at the mild end of the spectrum…[M]uch of the risk in these instances likely comes from common variants, which have small effects on their own, but can add up to increase overall risk.

Using gene expression maps, such as the BrainSpan Atlas, researchers have traced when and where autism genes are active in the brain.

In the meantime, genetic discoveries have delivered some immediate benefits for people with the condition. “If you go into a clinic today, there’s about a 10 percent chance of you getting a genetic diagnosis,” says [Stephan Sanders, assistant professor of psychiatry at the University of California, San Francisco]. “We can’t then turn round and say, ‘Here’s your cure,’ but what we can do, at least, is put people in touch with other people with that same mutation.”

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: From 0 to 60 in 10 years

The GLP aggregated and excerpted this article to reflect the diversity of news, opinion, and analysis. Click the link above to read the full, original article.
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