Autism Reality

Autism Genome Project – Phase II Underway

Phase II of the Autism Genome Project is now officially underway. Phase I saw the assembly of the genetic biobank and autism genome scan aimed at finding susceptibility genes. Now the international research team including Canadians Dr. Peter Szatmari and Dr. Stehen Scherer have launched Phase II using gene chip technologies to scan the genome for association with new genetic markers, and sub-microscopic copy number variations (CNVs) along chromosomes in autism. The Canadian role is central to the project:

“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.”

Many thanks are owed to all the researchers from this international consortium, to the parents, families and autistic persons who contributed to the databank and to the backers of this incredible project: Genome Canada/Ontario Genomics Institute, the Canadian Institutes of Health Research, 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.

Discussion of the causes, even the nature, of autism is often heated and controversial, fueled by emotion and marked by an absence of hard facts. More heat than light as the old saying goes. The Autism Genome Project, based on a massive assembled bio-genetic data bank, enhanced by refreshing international scientific and professional research cooperation, and energized by rapidly developing technologies promises to add much more light to our understanding of autism disorders.

March 8, 2007 Posted by | autism disorder, Autism Genome Project, international cooperation, Scherer, Szatmari, technology | Leave a comment

Funding Critical to Autism Research

In the excitement of the big autism genome breakthrough the Montreal Gazette offers an important reminder that the research behind this breakthrough was made possible by funding. Funding is critical to sustained uninterrupted research. Now is not the time for complacency. Now is the time to move ahead with more research and with more funding to ensure that the research continues.

Thank you to Dr. Peter Szatmari and all involved in this collaborative effort. As a Canadian I am very proud of the Canadians who led this research effort and I hope that our federal government shows some heart, and some good sense, and continue to fund autism research.

Funding helped autism discovery

The Gazette

Published: Tuesday, February 20, 2007

News of a breakthrough in understanding the genetics of autism, which was splashed dramatically across the world’s front pages yesterday, provides a precious lesson in the value of research.

The discovery came from a vast sleuthing effort: More than 130 researchers from 50 institutions in eight countries made scans of DNA from 8,000 people in 1,600 families. From all that data, scientists uncovered two new mutations possibly linked to an increased risk of susceptibility to autism, a neurological condition of varying degrees of complexity. The breakthrough should lead, via more accurate diagnostic tests, to earlier, more pertinent therapy.

All those resources were mobilized because of the growing realization that autism is far more widespread than previously thought, touching as many as one child in 165.

Canadians were among the scientists who led the effort. Peter Szatmari, director of the Offord Centre for Child Studies at McMaster Children’s Hospital, is described as setting the groundwork for the international effort that got under way in 2002. Steve Scherer, senior scientist of genetics and genomic biology at Toronto’s Hospital for Sick Children, is a project co-leader.

The international research effort is run by the Autism Genome Project, Canada’s part of which is underwritten by a $6.9-million grant from Genome Canada, primary funder in Canada of genomics and proteomics research.

Every Canadian should be proud this country has contributed to this promising research.

Despite some recent successes, Canada’s investment in scientific research has not been everything it could be. In 2005, 40 prominent scientists criticized the Liberal government’s funding policy, which required scientists seeking federal funding to find matching money elsewhere. The scientists argued scientific excellence alone should be considered, because premature emphasis on commercial application could stifle basic research.

Ottawa has since 1999 pumped more than $7 billion into scientific research – enough to keep top scientists in the country. But that funding could come to an abrupt end once $400 million in grants announced in November by Industry Minister Maxime Bernier runs out.

The dangers of this kind of off-and-on-again approach to funding were explained to The Gazette in 2004 by Sean Taylor, project manager for the Montreal Proteomics Network: “You don’t invest all this money in burgeoning fields like genomics and proteomics, and then just drop it,” he said. For Canada to become a research hub, scientists need time and secure funding, Taylor said.

Alberta, at least, seems to understand that. Last week, it announced it will use money from the Alberta Heritage Foundation for Medical Research to try to attract – and keep – “superstar” medical researchers to the province. What a good investment.

February 20, 2007 Posted by | Autism Genome Project, autism spectrum disorder, funding, govenrment, research, Szatmari | Leave a comment