MUHC searches for causes of autism

Armen Hareyan's picture
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The international research for finding the causes of autism is considered groundbreaking and will be based on the DNA samples of patients with autism.

Dr. Eric Fombonne, from the Research Institute of the MUHC at the Montreal Children's Hospital, is involved in a multi-site consortium to gather DNA samples from 2,000 autism patients and their families over the next three years.

The Simons Simplex Collection (SSC) is a coordinated effort to create a database of genetic and behavioral information about cases where there is only one family member with autism. This group, which represents the great majority of autism spectrum disorders, Is expected to lead to the discovery of new genetic factors that increase the risk of autism.

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In addition, this database will be accessible online by the scientific community and will represent an invaluable tool for future research projects.

"This database will link state-of-the-art genetic analysis to very detailed behavioral assessments. This is an unprecedented project that could greatly enhance our understanding of underlying biological processes," explains Dr. Fombonne. "This is an important step towards the unraveling of genetic mechanisms and understanding the pathophysiology of this disorder of brain development."

Families are currently being recruited to participate in an initial assessment and then may be invited to participate in other research projects as work continues. Those eligible to participate are families with only one child with an autism spectrum disorder (ASD) who is four years of age or older; with one or more siblings without an ASD, age four or older; and biological parents without an ASD and who are willing to participate. Eligible children with an autism spectrum disorder will receive a behavioral assessment and all family members will donate blood, a source of DNA. A small number of families with no siblings or siblings under the age of four may be eligible to participate in the study.

"The MUHC is committed to recruiting 200 families by the end of 2009. This represents an important challenge, but being the only centre in Canada we hope to be able to attract the required number of English speaking patients," says Dr. Fombonne.

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