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[LINK] “New research can help predict autism at earlier age: SickKids scientists”

This CTV report about a breakthrough at Toronto’s Hospital for Sick Children in identifying genes associated with autism conveys remarkable news. Diagnosis of autism, even treatment, will become much less difficult. (Conversely, the identification of so many different associated genes may also emphasize that autism isn’t a unitary disease–it may be better to speak of “autisms”.)

Scientists at Toronto’s Hospital for Sick Children say they have unraveled the genetic code associated with autism, which will help detect the disorder at an earlier age.

In a study published Sunday in the online edition of Nature Genetics, SickKids researchers say they’ve been able to create a genetic formula to help clinicians identify genetic mutations that have the highest and lowest likelihood of causing autism spectrum disorders.

“We think this is a game-changer,” Stephen Scherer, a senior scientist at SickKids and lead author of the study, told CTV News Channel Monday.

“We don’t get to say this very often in science, but this is a significant discovery that changes the way we look at data that we’ve had for a long time.”

Scherer said the research has established a connection between autism and certain genes that are “turned on” in early fetal development.

More importantly, Scherer said, his team has been able to pinpoint small gene segments, called exons, that are activated in the early stages of brain development.

The team identified almost 4,000 such brain exons in more than 1,700 different genes

See also the Toronto Star and The Globe and Mail, as well as the Hospital for Sick Children’s press release.

The paper in question is at Nature, here.

Written by Randy McDonald

May 27, 2014 at 1:29 am