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.
Bringing Rare Disease Gene Therapies to Clinical Trial Readiness Operating Grants Awardees
Congratulations to the recipients of the Bringing Rare Disease Gene Therapies to Clinical Trial Readiness Operating Grants. Each team will receive $1,137,500 over four years to advance the development of gene therapies for rare disease clinical trials in Canada.
There are more than 7,000 known rare diseases but only five per cent have a treatment and fewer have a cure. Gene therapy approaches have been successful with many rare diseases. However, in Canada there is a gap in moving these therapies from preclinical research to human clinical trial readiness.
Working closely with the National Research Council's Human Health Therapeutics Research Centre, the researchers funded through these grants will help bridge this gap by generating the evidence required for first-in-human clinical trials, contributing to future therapies for people in Canada living with a rare disease.
Recipients
Name: Dr. Carl Ernst
Institution: McGill University
Location: Montreal, Quebec
Project title: Resolving roadblocks to clinical trial readiness for rare brain disease gene therapy
Name: Dr. Lucie Germain
Institution: Université Laval
Location: Quebec City, Quebec
Project title: GMEB-SASS: The first clinical trial phase I/II using a genetically modified epidermolysis bullosa self-assembled skin substitute to treat dystrophic epidermolysis bullosa, a severe rare skin disease
Name: Dr. Nancy Braverman
Institution: Research Institute of the McGill University Health Centre
Location: Montreal, Quebec
Project title: Toward clinical translation of retinal gene therapy for Zellweger Spectrum Disorder
Pediatric Rare Disease Clinical Network Team Grant Awardees
Congratulations to the recipients of the National Pediatric Rare Disease Clinical Trials Team Grant. Funded through the CIHR Rare Disease Research Initiative, the team will receive $20 million over five years to create RareKids-CAN: Pediatric Rare Disease Clinical Trails and Treatment Network.
The national Network will foster collaboration among researchers, patients, caregivers, health care providers, and policy makers; streamline clinical research; and support national and international clinical trials to advance discoveries, enable better prevention, diagnosis, and treatments, to improve health outcomes for children and adolescents affected by rare diseases.
Recipient
Name: Dr. Thierry Lacaze-Masmonteil
Institution: Maternal Infant Child and Youth Research Network
Location: Vancouver, British Colombia
Project title: RareKids-CAN: Pediatric Rare Disease Clinical Trails and Treatment Network
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