Media Releases

New genetic findings expected to accelerate autism testing and development of treatments

June 11, 2010

TORONTO, ON – Canadian and international scientists have uncovered key changes in DNA in individuals with autism. The Phase 2 results of the multinational Autism Genome Project Consortium published in the June 9 advance online edition of Nature, substantiate the importance of genes as susceptibility factors in autism spectrum disorders.

This study is the largest of its kind, involving 1,500 families and more than 120 scientists and clinicians from across North America and Europe. The team was led by Dr. Stephen Scherer, corresponding author of the study, Senior Scientist at The Hospital for Sick Children (SickKids), Director of The Centre for Applied Genomics at SickKids and the McLaughlin Centre at the University of Toronto and Dr. Peter Szatmari, co-principal investigator, Director of the Offord Centre for Child Studies and Professor at McMaster University. Dr. Dalila Pinto, Postdoctoral Research Fellow at SickKids, was lead author.

Using microarrays (or gene-chip technology) in the highest-resolution testing to date, researchers investigated individuals with autism spectrum disorders (ASDs). ASDs, diagnosed in one in 110 children, are a group of neurodevelopmental conditions resulting in challenges connected to communication, social understanding and behaviour.

The researchers reported that individuals with ASDs tended to carry more insertions and deletions affecting their genes – called copy number variants (CNV) – than did people in the control group. Some of these CNVs appeared to be inherited, while others are considered new, because they are found only in offspring with autism and not in the parents. Dozens of new “autism risk genes” were discovered, including some that might be helpful in early diagnosis.

“We now know several of the genes involved in autism and for the first time, we are able to tie many of these genes into the same biological pathways involved in brain function,” says Scherer. “Knowing these autism genes are linked, we can begin to develop therapies to target the common pathways involved.”

Szatmari adds, “This study will lead to a paradigm shift when it comes our understanding of the root causes of autism and indeed other neurodevelopmental disorders. Previously it was believed that autistic individuals share common genetic variations in a few genes. This research points to the fact that genetic variations are actually rare, meaning individuals with autism are genetically quite unique. But as we discover more and more of these variants, the number of cases of ASD we can explain increases substantially. ”

According to Pinto, “Another surprising discovery was the significant overlap between autism susceptibility genes and those genes that were previously thought to be implicated in intellectual disability. This suggests that at least some genetic risk factors are shared at the pathway level by different mental health disorders and developmental disabilities, providing insights into possible common pathogenic mechanisms”.

The study found that for about 10 per cent of the families studied, there are some genetic clues that may assist in the early diagnosis of autism or related complications. The Canadian researchers say the next step a goal is to set up mechanisms and processes so that all families who are interested can have access to this testing.

“Guided by these massive genomic data sets, we can start to see the forest through the trees, offering answers and hope for families with autism,” says Scherer.

The Autism Genome Project consists of 120 scientists from more than 50 institutions representing 12 countries who formed a first-of-its-kind autism genetics consortium. The Project began in 2002, when researchers from around the world came together to share their samples, data and expertise to facilitate the identification of autism susceptibility genes.

The funding to the Canadian team which provided leadership in the identification and analysis of these genes came from public and private partners including major awards and support from Genome Canada through the Ontario Genomics Institute, the McLaughlin Centre, the Canadian Institutes of Health Research, the Canadian Institute for Advanced Research, the Canada Foundation for Innovation, the Ministry of Research and Innovation, the Ontario Innovation Trust, the Catherine and Maxwell Meighen Foundation, the Premier’s Summit Award in Medical Research, Autism Speaks, The Centre for Applied Genomics, the Chedoke Health Corporation, the Mayberry Family Fund, the Hamilton Health Sciences Foundation and SickKids Foundation.

Pinto was supported by fellowships of the Netherlands Organization for Scientific Research and the Royal Netherlands Academy of Arts and Sciences.

About The Hospital for Sick Children (SickKids)
The Hospital for Sick Children (SickKids) is recognized as one of the world’s foremost paediatric health-care institutions and is Canada’s leading centre dedicated to advancing children’s health through the integration of patient care, research and education. Founded in 1875 and affiliated with the University of Toronto, SickKids is one of Canada’s most research-intensive hospitals and has generated discoveries that have helped children globally. Its mission is to provide the best in complex and specialized family-centred care; pioneer scientific and clinical advancements; share expertise; foster an academic environment that nurtures health-care professionals; and champion an accessible, comprehensive and sustainable child health system. SickKids is proud of its vision of Healthier Children. A Better World.™ For more information, please visit

About the University of Toronto
Established in 1827, the University of Toronto has one of the strongest research and teaching faculties in North America, presenting top students at all levels with an intellectual environment unmatched in depth and breadth on any other Canadian campus. With more than 75,000 students across three campuses (St. George, Mississauga and Scarborough) and over 450,000 alumni active in every region of the world, U of T’s influence is felt in every area of human endeavour.

About McMaster University
McMaster University, one of four Canadian universities listed among the Top 100 universities in the world, is renowned for its innovation in both learning and discovery. It has a student population of 23,000, and more than 140,000 alumni in 128 countries.


For more information, please contact:

Matet Nebres
The Hospital for Sick Children

Suzanne Gold
The Hospital for Sick Children
416-813-7654, ext. 2059

Paul Cantin
University of Toronto Temerty Temerty Faculty of Medicine

Veronica McGuire
McMaster University
905-525-9140, ext. 22169