Enhance CARE for RARE genetic diseases in Canada

PROJECT LEAD(S)/CO-LEAD(S) Kim Boycott & Alex MacKenzie (University of Ottawa Children's Hospital of Eastern Ontario Research Institute)
COMPETITION/ FUNDING OPPORTUNITY Genome Canada - 2012 Large Scale Applied Research Project Competition
PROJECT END DATE March 31, 2018
ALBERTA’S ROLE Participant

CARE for RARE is a collaborative pan-Canadian project configured to improve the diagnosis and treatment of rare diseases. The team will use new powerful DNA sequencing methods to discover 60 new genes, each of which causes a rare disease. The identification of new genes provides useful biological information, giving us insight into cellular pathways significant in human health. Most importantly, for such families a molecular diagnosis has direct and immediate clinical impact; invasive diagnostic investigations will cease, the clinical course and management will become clearer, ineffectual treatments can be safely halted, a definitive treatment may be available, and precise reproductive counselling can be provided. This project will also initiate exploration of therapies for as many as 30 rare disorders and anticipate that one or more will be ready for clinical application by the project’s end date. The personalized diagnostic and therapeutic approaches the project proposes here for rare diseases will identify Canada as a leader in this critical realm.

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