Canadian team launches second phase of international autism genome project

Toronto, ON – Fresh from their latest discovery and supported by $26.7 million in public and private funding, Canadian and international scientists have launched the second phase of a global scientific effort to map the genes responsible for causing autism.

The first phase of the multi-million dollar Autism Genome Project achieved its goal of assembling the largest biobank in the world and conducting the most comprehensive genome scan in autism genetics, aimed at finding susceptibility genes. This research was performed by 137 scientists from more than 50 institutions representing 8 countries who formed a first-of-its-kind autism genetics consortium, the Autism Genome Project (AGP). Results from phase 1 were published this week in the distinguished scientific journal Nature Genetics.

Building on this success, the coalition of researchers, including a Canadian team led by Dr Stephen Scherer of the Hospital for Sick Children and Dr Peter Szatmari of the Offord Centre for Child Studies, will now apply gene-chip technologies to scan the genome for association with new genetic markers, as well as sub-microscopic copy number variations (CNVs) along chromosomes in autism.

These findings will guide high-throughput DNA sequencing experiments designed to pinpoint underlying changes in DNA sequences in autism susceptibility genes. The unprecedented statistical power generated by the AGP will ultimately allow researchers to confirm the role of these genes in autism spectrum disorders.

“In essence, we will be looking at the genes to see if there is any abnormality that might cause this complex developmental disorder,” says Dr Szatmari. “We also want to know if the genes interact to create a combined effect that is more powerful than each alone, or whether they operate only in certain subgroups of children, such as females, those who are higher functioning, or those who have Asperger Syndrome.”

“The availability of the Centre for Applied Genomics, a provincially and nationally supported genomics infrastructure, will allow us to scan the genomes at the highest resolution, for both samples from Canada and around the world, making the Canadian contribution central to the AGP’s success,” says Dr Scherer.

A total of $26.7 million over the next three years is being provided by public and private partners, including Genome Canada/Ontario Genomics Institute and the Canadian Institutes of Health Research. Other funding partners include Autism Speaks, the British Medical Research Council (MRC), the Health Research Board of Ireland (HRB), Southwest Autism Research and Resource Center (SARRC), the Hilibrand Foundation, the McLaughlin Centre for Molecular Medicine, IBM, the Catherine and Maxwell Meighen Foundation, and SickKids Foundation. This combination of international, public and private partners funding a consortium of clinicians and scientists is a first in the field of autism research.

“The Autism Genome Project is an important example of Canadian researchers working with their colleagues around the world to address an important challenge in human health. This research will yield a better understanding of autism, lead to earlier diagnosis, and more effective interventions for children and their families affected by autism,” says Dr Alan Bernstein, president of the Canadian Institutes of Health Research (CIHR).