MUHC Expert Joins Colleagues in Announcing Autism Genome Project Findings

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.

The 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 centre affiliated with the Faculty of Medicine at McGill University. The institute supports over 500 researchers, nearly 1,000 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:

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 three leading autism advocacy organizations in the US. To learn more about Autism Speaks, please visit

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Christine Zeindler
Communications Coordinator (research)
MUHC Public Relations and Communications