Dr. Stephen Scherer's whole genome sequencing in ASD makes Discover Magazine's top 100 for 2013

December 9, 2013

In a special double issue "jam-packed with the best science," Discover Magazine features a story on the international project, co-led by Dr. Stephen Scherer, that sequenced the entire genomes of 32 children with autism this year.

The study, published in July, revealed that half of the children had genetic variants associated with social anxiety, epilepsy, and other conditions associated with ASD.

NeuroDevNet covered the findings emanating from Dr. Scherer's lab, one of the epicentres in the international drive to identify the genetic variants associated with ASDin our new annual report, "Making an Impact."

There, in the MaRS facility in Toronto’s University-Hospital Core, Dr. Scherer, the co-lead of NeuroDevNet’s autism research group, is bringing the world closer to the underlying causes of autism and biologically based tools for diagnosis.

Emboldened by the vast technological resources vested in a joint project with the Beijing Genomics Institute and Autism Speaks that aims to analyze the whole genomes of 10,000 ASD-affected families around the world, Scherer’s group ventured the very first whole genome analysis in the disorder drawing on Canadian data. Their study of 32 families produced a startling finding: as many 50 percent of people with ASD may have an identifiable genetic variant that explains some of their symptoms.

"Whole genome analysis (WGA) enabled us to look at the full extent of genetic involvement in ASD for the first time," Scherer says of the $1 million pilot study supported by NeuroDevNet and the Beijing project partners.  He and his colleagues found associations with ASD in four genes not previously linked with the disorder.

High-quality, multi-generational data from Network Investigator Dr. Peter Szatmari and Autism research group Co-Lead Dr. Lonnie Zwaigenbaum “was critical to the study,” he adds. "The power was often having multiple affected people in a family, in multiple generations, as well as unaffected kids, to look at segregation. This highlights the unique contributions and capacities of the network.”

Scherer believes whole genome analysis has the potential to identify even more genetic variants in ASD than current sequencing strategies. “Our findings have primed many other things coming soon, and many ideas to follow.”

Congratulations to Dr. Scherer on the discovery, and its inclusion in Discover Magazine's "The Year in Science" 100 Top Stories of 2013!

Read a pdf of Valerie Ross' story on Dr. Scherer's work

Photo Courtesy of Autism Speaks, via Twitter.