Genomic Tools for the Diagnosis and Evaluation of Mental Retardation
The identification of pathogenic chromosomal imbalances in children with idiopathic mental retardation using genomic tools.
| Project Leaders | Marco Marra , Jan Friedman |
|---|---|
| Project Co-Investigators | Patrice Eydoux, Sylvie Langlois, Allen Delaney, Agnes Baross, Carlo Marra, Bartha Knoppers |
| Involved Organizations |
Canada's Michael Smith Genome Sciences Centre
University of British Columbia
University of Montreal
|
| Funding Agencies |
Genome Canada
Genome British Columbia
Canadian Foundation for Innovation
Child & Family Research Institute
|
Overview
Mental retardation affects more than 300,000
Canadians with a life-long severe disability. The cause of most mental
retardation remains unknown, but chromosomal abnormalities like Down syndrome
are the most frequent recognized cause. For more than 40 years, the standard
clinical method for detection of chromosomal abnormalities has been karyotyping,
a technically-demanding microscopic technique that requires highly-skilled
interpretation. Recent studies have shown that some children with mental retardation
have genomic imbalance that is too small to see with karyotyping but that can
be found with special molecular genetic tests.
The purpose of this project is to evaluate
high-resolution array genomic hybridization (AGH) as an alternative to
kayrotyping for the identification of chromosomal abnormalities in people with
mental retardation. We are testing samples from 254 children with mental
retardation in whom standard karyotyping is normal. All chromosomal imbalance
found by microarray experiments will be confirmed by standard molecular genetic
techniques to establish the reliability of the AGH method. Both parents of each
of the children found to have chromosomal imbalance by microarray experiments
will also be studied, and clinical data will be used as an additional method of
validating the microarray findings.
A GE3LS (Genetics Ethical, Economic,
Ecological, Legal and Social issues) component will assure that the nationwide
exchange of clinical research data and specimens is done in an appropriate
Canadian legal, ethical and social context that reflects international norms.
A Health Technology Assessment component will
provide the expertise necessary to determine whether patients, their families,
and the Canadian health care system would benefit by replacing routine
karyotyping with AGH for the identification of chromosomal abnormalities in
people with mental retardation.
Contact Information:
Cecelia Suragh, Project Manager
Genome Sciences Centre, BC Cancer Agency
Email: csuragh@bcgsc.ca
Phone: 604-707-5900 x 5427
Fax: 604-876-3561
For all project related inquires please contact us.