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About SickKids

February 18, 2007

Canadian team launches second phase of international autism genome project

TORONTO – Fresh from their latest discovery and supported by $26.7 million CAD in public and private funding, Canadian and international scientists today 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 are published today in the distinguished scientific journal Nature Genetics (see accompanying press release).

Building on this success, the coalition of researchers, including a Canadian team led by Dr. Stephen Scherer of The Hospital for Sick Children (SickKids) and Dr. Peter Szatmari of the Offord Centre for Child Studies, will now apply state-of-art ‘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,” said 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.” said Dr. Scherer.

A total of $26.7 million CAD over the next three years is being invested in the effort 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 unique combination of international, public and private partners funding a consortium of clinicians and scientists is unprecedented in the field of autism research.

“Autism appears to be the result of a complex interaction of multiple genes and the interplay between genes and factors in the environment. Thus integration across disparate scientific fields, approaches, and functional skill sets is now more important than ever if the scientific promises are to realize its potential in the form of new drugs and therapies, once susceptibility genes will be identified and changes in DNA sequences validated. This is why Genome Canada is proud to be the major financial supporter of this international large-scale Autism Genomics Consortium,” stated Dr. Martin Godbout, President & CEO of Genome Canada.

“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,” said Dr. Alan Bernstein, President of the Canadian Institutes of Health Research (CIHR), another investor in phase two of the project.

Autism is a complex developmental disorder affecting roughly one in 165 children, making it the most common form of any neurological disorder or severe developmental disability of childhood. Those affected exhibit severe impairments in reciprocal social interaction and communication, and a preference for repetitive, stereotyped behaviours.

“The identification of susceptibility genes will provide profound new insight into the basis of autism offering a route to breakthroughs in new treatments in support of families,” said Autism Speaks co-founder and board chair, Bob Wright, NBC Universal chairman and CEO, and grandfather of an autistic child.

The Offord Centre for Child Studies is an internationally recognized research centre devoted to studying the factors that influence the emotional, social and cognitive development of children and youth. Responsible for some of the most exciting recent developments in the field of autism research, its reputation as a centre of excellence in autism research is second to none in Canada. The Offord Centre is affiliated with McMaster University and McMaster Children’s Hospital. For more information, please visit our Web site at www.offordcentre.com.

The Hospital for Sick Children (SickKids), affiliated with the University of Toronto, is Canada’s most research-intensive hospital and the largest centre dedicated to improving children’s health in the country. As innovators in child health, SickKids improves the health of children by integrating care, research and teaching. Our mission is to provide the best in complex and specialized care by creating scientific and clinical advancements, sharing our knowledge and expertise and championing the development of an accessible, comprehensive and sustainable child health system. For more information, please visit www.sickkids.ca. SickKids is committed to healthier children for a better world.

Sherry Cecil
Offord Centre for Child Studies
(905) 521-2100, ext. 74946

For more information, please contact:

Public Affairs
The Hospital for Sick Children
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Toronto, ON
M5G 1X8
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