Dr. Kym Boycott
Senior Scientist, CHEO Research Institute, and Tier 1 Canada Research Chair in Rare Disease Precision Health at the University of Ottawa
Care4Rare Canada uses advanced genome sequencing, national data-sharing, and precision health tools to bring answers to rare disease families.
Care4Rare Canada, a national research collaboration led out of the CHEO Research Institute, has harnessed cutting-edge genetic technologies to transform the diagnostic landscape for rare disease families for over a decade. Through this work, Care4Rare has identified diagnoses that evaded conventional testing for hundreds of families and advanced the use of genomic sequencing as a diagnostic tool across the country.
Over the next 4 years, supported by Genome Canada’s Canadian Precision Health Initiative, Care4Rare will partner with clinicians, researchers and rare disease families across Canada to bring access to genetic technologies to more rare disease families than ever before. Care4Rare will use cutting-edge technologies such as long-read genome sequencing, and transcriptomics, along with advanced analysis techniques to generate more than 17,000 genomic datasets and identify diagnoses that were once invisible for more than 2,000 families with a rare disease.
This research will enhance diagnostic accuracy, drive technological innovation, and improve equitable access to genomic medicine across the country. By generating an unprecedented, diverse rare disease dataset, this initiative will advance Canada’s leadership in precision health and most importantly, will bring long-awaited answers to families living with rare disease.
Data Sharing enables Rare Disease Diagnoses
Rare diseases present a unique diagnostic challenge that highlights the need for individualized, data-driven solutions.
For many families, having a name for their child’s condition changes everything. However, the siloing of rare disease data slows down research, and remains a significant barrier to enabling precision health and faster diagnosis. To remedy this, Care4Rare contributes to Pan-Canadian data repositories such as Genomics4RD, and the Pan-Canadian Genome Library (PCGL). These databases harmonize data collection, facilitate precision medicine, and foster data sharing and matchmaking on an international scale. This collaborative data sharing model accelerates diagnosis and ensures that knowledge gained from one family can help another. The diagnoses identified provide families with clarity and may help connect them to emerging treatments, research, and support networks.
Responsible data sharing is an essential component of enabling precision health for families living with rare disease.
“Rare may describe a disease, but it should not define access to a diagnosis. Care4Rare’s precision health research is helping families spend less time searching for answers and more time supported by them,” says Dr. Kym Boycott, Senior Scientist and Tier 1 Canada Research Chair in Rare Disease Precision Health at the University of Ottawa. Responsible data sharing is an essential component of enabling precision health for families living with rare disease.
Building Equity Into Precision Health
Care4Rare is committed to enabling equitable access to genomic medicine. Precision health works best when it reflects the diversity of the people it serves. When genomic datasets meaningfully include individuals from different backgrounds, discoveries are more accurate, diagnoses are more precise, and care improves for all.
Through the PCGL, Equity, Diversity, and Inclusion principles are built directly into how data is collected and coordinated, helping create a more representative and impactful foundation for precision health.
Care4Rare recognizes how collaboration, innovation and national investment are transforming rare disease patient’s diagnostic odyssey. On Rare Disease Day, we celebrate progress in precision health that turns questions into answers for rare disease families.
Visit care4rare.ca to learn more!
