CIHR Rare Disease Research Initiative: Results

Improving Diagnosis for Rare Disease Patients Team Grants Awardees

Congratulations to the recipients of the Improving Diagnosis for Rare Disease Patients Team Grants. Each team will receive $1.375 million over three years to improve the rare disease diagnosis process in Canada.

It takes on average seven years for a patient to receive a diagnosis for a rare disease. By prioritizing genomics, these teams aim to determine the most efficient pathway to diagnose rare diseases, improving the health and well-being of those living with a rare disease and their families.

Recipients

Name: Dr. Kym M. Boycott
Institution: Children's Hospital of Eastern Ontario Research Institute
Location: Ottawa, ON
Project title: A Canadian knowledge-to-action roadmap for evidence-informed implementation of first-tier clinical genome-wide sequencing for rare disease (K2A-RD)

Name: Dr. Gregory Costain
Institution: Hospital for Sick Children
Location: Toronto, Ontario
Project title: TRIAGE-GS: a randomized controlled trial of a genomics-first approach to rare disease diagnosis

Name: Dr. Paula D. James
Institution: Queen's University
Location: Kingston, Ontario
Project title: Early genomic testing for inherited bleeding disorders in patients without a diagnosis after first-line testing: a randomized controlled trial.

Improving Health and Administrative Data and Monitoring for Rare Diseases Team Grants Awardees

Congratulations to the recipients of the Improving Health and Administrative Data and Monitoring for Rare Diseases Team Grants. Funded through the CIHR Rare Disease Research Initiative, each team will receive $1.6 million over four years.

With thousands of known rare diseases, Canada needs consistent tracking and monitoring of rare disease data. This funding supports research to determine the prevalence, direct cost, and burden of rare disease in the Canadian health care system. Their work will also allow for better data sharing and collaborations between hospitals and researchers.

Recipients

Name: Dr. Deborah A Marshall
Institution: University of Calgary
Location: Calgary, Alberta
Project title: RAre Disease Administrative Data Research (RADAR) Team: putting the health system impact of rare diseases on the radar.

Name: Dr. Reshma Amin
Institution: Hospital for Sick Children
Location: Toronto, Ontario
Project title: Real-World Evidence for Canadian Neuromuscular Disease: Establishing a Framework for National Integration of Patient Reported Outcomes, Clinical Registry Data, Healthcare Utilization and Healthcare Associated Costs.

Date modified:

2024-06-06