Solving the Unsolvable with Care4Rare

In the twenty-third installment of the PhenoTips Speaker Series, the primary investigator at the national Care4Rare Canada Consortium, Dr. Kym Boycott, presents the methods, example cases, and current findings of the pioneering rare disease initiative.


With approximately 7,000 different rare diseases scattered across Canada, and one-third of these diseases unsolved, it can be difficult to find diagnoses for patients and families with rare conditions. Reaching diagnosis can mean finding answers, community, and the promise of targeted treatments, but without methods through which to bolster collaboration or infrastructure to integrate sequencing technology into clinical care, many patients are left to wander endless diagnostic odysseys. Care4Rare SOLVE supports the rapid diagnosis of genetic diseases through an international collaborative network — supported by bioinformatics infrastructure such as PhenoTips — that facilitates data sharing between Canadian stakeholders, allowing collaboration on novel gene discovery and research for the benefit of Canadian patients.

Dr. Kym Boycott is a Professor of Pediatrics at the University of Ottawa, where she is a Clinical Geneticist at the Children’s Hospital of Eastern Ontario (CHEO), Chair of the Department of Genetics, and a Senior Scientist at the CHEO Research Institute. Dr. Boycott is a Tier 1 Canada Research Chair in Rare Disease Precision Health and leads the national Care4Rare Canada Consortium integrating genomic and other –omic technologies to improve our understanding of rare diseases, with a particular focus on solving the unsolved and most difficult rare diseases. To leverage these discoveries, she co-leads the Canadian Rare Diseases: Models & Mechanisms Network, established to catalyze connections between newly discovered rare disease genes and basic scientists who can rapidly study them in model systems. Globally, she moves the rare disease agenda forward as part of the Global Commission to End the Diagnostic Odyssey for Children.

Dr. Boycott’s presentation, she shares:

  • Care4Rare’s history and mission
  • How Care4Rare facilitates the translation of genome-wide sequencing technology
  • How Care4Rare and the All for One Precision Health Partnership supports data-sharing and facilitates research
  • The national data infrastructure built on PhenoTips technology for sharing data and matchmaking
  • Three cases solved by Care4Rare after facing 10+ years long diagnostic odysseys

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