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About SickKids

April 25, 2014

SickKids-led researcher team develop new genetic “guidebook” for autism diagnosis

TORONTO - In the largest study of its kind, an international group of scientists from the Autism Genome Project (AGP) have definitively shown that copy number variants (CNV) can cause autism or serve as a significant risk factor for autism development. As a result, the research team, led by The Hospital for Sick Children (SickKids), urges that testing for CNVs should be a routine diagnostic technique. The study is published in the advanced online edition of the American Journal of Human Genetics.  

CNVs are genetic changes that involve the duplication or deletion of large segments of DNA, often spanning many genes. However, CNVs don’t typically show up on standard genetic tests. Most tests look for mistakes in individual genes and these tests only identify a definitive genetic cause for autism 15 to 20 per cent of the time.

“This research should become a “guidebook” for medical geneticists working with families affected by autism,” says Dr. Stephen Scherer, principal author of the study and senior scientist and director of The Centre for Applied Genomics at SickKids and the University of Toronto McLaughlin Centre. “These gene discoveries will also help guide further research on autism subtypes and treatment.”

The study also identified 43 new genes linked to autism. The research involved over 7,000 families and included families affected by autism and families who were unaffected by autism or neurologic and psychiatric disorders. CNVs were found to be significantly more common in families affected by autism. In addition, the CNV testing found dozens of cases where autism-linked gene changes were associated with additional health risks, including seizures and epilepsy, muscular dystrophy and syndromes associated with heart problems.  

The research was supported by grants from The University of Toronto McLaughlin Centre, NeuroDevNet, Genome Canada and the Ontario Genomics Institute, Autism Speaks and SickKids Foundation. S.W.S. holds the GlaxoSmithKline-CIHR Chair in Genome Sciences at the University of Toronto and The Hospital for Sick Children.