http://www.mcgill.ca/newsroom/news/?ItemID=23909

MUHC Communications (Research) [website] [newswire]
 
MUHC Expert Joins Colleagues in Announcing Autism Genome Project Findings 

February 18, 2007  

Preliminary results identify genetic mutations associated with autism

An international consortium of researchers, including Dr. Eric Fombonne,
Director of Pediatric Psychiatry at the Montreal Children's Hospital of the
MUHC, and participating families joined together to announce the publication of
the preliminary results from the largest genome scan ever in autism research.
The groundbreaking study is published in the new issue of Nature Genetics, one
of the world's most prestigious research journals.

"The Autism Genome Project (AGP), which began in 2002, represents a unique
opportunity for scientists from more than 50 institutions, representing 19
countries, to come together to share samples, data, and expertise to facilitate
the identification of autism susceptibility genes," says Dr Fombonne, an autism
expert at the MUHC, co-author of the research and member of the steering
committee of the AGP.

The 120 scientists involved in the AGP leveraged the unprecedented statistical
power generated by this unique sample set by using "gene chip" technology to
look for genetic commonality in autistic individuals from almost 1,200 families.
The researchers also scanned DNA from these families for genetic mutations known
as copy number variations (CNV), or sub-microscopic genomic insertions and
deletions, that scientists believe might be involved with this and other common
diseases. 

"The phase one results published today reveal new genetic mutations associated
with autism that were previously unknown," says Dr Fombonne, a McGill University
professor of psychiatry. "Specifically, the findings implicate a previously
unidentified region of chromosome 11 that has been associated with brain
development." 

The study also highlights a special group of nerve cells, called glutamate
neurons, and the genes affecting their development and function, suggesting they
play a critical role in autism spectrum disorders.

"This research has brought us closer to the discovery of autism susceptibility
genes, which will be welcome news for families dealing with this disorder," says
Dr Fombonne. "These exciting findings are also exemplary of how an international
scientific collaboration fostered by family associations can be successful in
elucidating the genetics of complex childhood diseases." 

"By combining cutting edge CNV analysis with the more traditional linkage and
association [analyses], the scientists now have a promising new experimental
framework to look for autism susceptibility genes," adds Andy Shih, Autism
Speaks chief science officer. "These exciting findings from the AGP linkage scan
confirm the value and contribution of multidisciplinary collaboration to
advancing autism research."

The AGP Consortium believes the identification of susceptibility genes in phase
two of the project will provide profound new insights into the basis of autism,
offering a route to breakthroughs in diagnosis and treatments in support of
families. 

Funding for this study was provided by in-part by Autism Speaks and the U.S.
National Institutes of Health.

About Autism
Autism is a complex brain disorder that inhibits a person's ability to
communicate and develop social relationships, and is often accompanied by
extreme behavioral challenges. The prevalence of autism in Canada is about 65
cases per 10,000 people (about 1 child in 160), making autism one of the most
common childhood disorders. The Psychiatry Department at the Montreal Children's
Hospital sees about 350 new cases of autism each year. However, Dr. Fombonne
stresses that there is no demonstrated autism epidemic. He attributes the rise
in autism rates to a broader definition of autism and greater awareness of the
disorder.

The Montreal Children's Hospital is the pediatric teaching hospital of the
McGill University Health Centre (MUHC). The institution is a leader in the care
and treatment of sick infants, children, and adolescents from across Quebec. The
Montreal Children's Hospital provides a high level and broad scope of health
care services, and provides ultra specialized care in many fields including:
cardiology and cardiac surgery; neurology and neurosurgery, traumatology;
genetic research; psychiatry and child development and musculoskeletal
conditions, including orthopedics and rheumatology. Fully bilingual and
multicultural, the institution respectfully serves an increasingly diverse
community in more than 50 languages. www.thechildren.com

TThe Research Institute of the McGill University Health Centre (RI MUHC) is a
world-renowned biomedical and health-care hospital research centre. Located in
Montreal, Quebec, the institute is the research arm of the MUHC, a university
health center affiliated with the Faculty of Medicine at McGill University. The
institute supports over 500 researchers, nearly 1000 graduate and post-doctoral
students and operates more than 300 laboratories devoted to a broad spectrum of
fundamental and clinical research. The Research Institute operates at the
forefront of knowledge, innovation and technology and is inextricably linked to
the clinical programs of the MUHC, ensuring that patients benefit directly from
the latest research-based knowledge. For further details visit:
www.muhc.ca/research

Autism Speaks is dedicated to increasing awareness of autism spectrum disorders,
to funding research into the causes, prevention, treatments and cure for autism,
and to advocating for the needs of affected families. It was founded in February
2005 by Suzanne and Bob Wright, the grandparents of a child with autism. Bob
Wright is Vice Chairman and Executive Officer, General Electric. Autism Speaks
has merged with both the National Alliance for Autism Research (NAAR) and Cure
Autism Now (CAN), bringing together the nation's three leading autism advocacy
organizations. To learn more about Autism Speaks, please visit
www.autismspeaks.org.

For more information please contact:

Contacts
Christine Zeindler
Communications Coordinator (research)
MUHC Public Relations and Communications
514- 843-1560

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