May 26, 2014 7:06 pm
Updated: May 26, 2014 9:22 pm

Sick Kids scientists discover genetic mutations that predict autism


TORONTO – Canadian scientists say they’ve unraveled the genetic code to autism, piecing together what they believe is the formula that could identify the condition earlier on in childhood.

Researchers at the Hospital for Sick Children say their new research released Monday could hold the key to early identification and treatment for autism.

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“We’ve known for a long time that genes and genetics are involved in autism but it’s been very difficult for us to figure out which genetic alterations actually manifest as autism or not,” lead researcher, Dr. Steve Scherer, told Global News.

Scherer is a senior scientist and director of the Sick Kids Centre for Applied Genomics.

“What we’ve done here is figure out a genetic formula which allows us to predict with reasonable accuracy which of those genetic changes will lead to autism and which ones will not,” he said.

Scherer even said the research is a “game-changer” and likely the most significant findings to come out of the lab within the decade.

READ MORE: Despite some funding, a diagnosis of autism is a huge financial burden

In the year-long study, Scherer and his team followed a hunch and decided to look into existing data on genetics. After poring over statistics, they created a ranking system, or an algorithm as he calls it, to determine which mutations lead to autism.

They weren’t looking at the entire gene, just small segments (called exons) so that they were getting focused correlations instead of background noise. Exons are also “turned on” during early brain development.

The team found about 4,000 exons in more than 1,700 different genes. The roughly 1000 or so known autism susceptibility genes already used in diagnostic testing were confirmed in this new approach, too.

READ MORE: Autism treatment – a system bursting at the seams

Right now, Scherer says that doctors use genetic changes to explain about 20 per cent of autism cases. But what’s unclear is the remaining 80 per cent.

He’s hopeful his new formula could help doctors tell which genetic mutations have the highest and lowest likelihood of causing autism spectrum disorder.

ASD, which allegedly affects one in every 68 kids, is a neurodevelopmental disorder. People with the condition typically face impairments in social interaction or communication, according to Scherer.

READ MORE: Canada lacks national autism strategy, UBC prof says

His findings were published Monday in the journal Nature Genetics.

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