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There are more than 7,000 rare diseases in Canada, together having a devastating impact on some one million Canadians and their families: two-thirds of the diseases cause significant disability; three-quarters affect children; more than half lead to early death;, and, almost none has any treatment. Further, the cause of more than one-third of these diseases is not known. Building on the work of the Care4Rare Canada Consortium, the C4R-SOLVE project is working to identify the genetic cause of unsolved rare diseases and make genome-based clinical diagnostic tests available. These tests will speed up the diagnostic process, thereby preventing years of what can be a seemingly unending series of visits to specialists and testing – difficult for families and expensive for the health-care system.

Key to C4R-SOLVE’s success will be new sequencing technologies and improved worldwide data sharing. In addition, the group will work with provincial ministries of health to determine how best to include genome sequencing as a clinical test to diagnose rare diseases, beginning with Alberta and Ontario. In doing so, C4R-SOLVE will more than double our ability to diagnose patients with the one-third of rare diseases whose cause is, at present, unknown, while building infrastructure and tools to improve diagnosis throughout the world. Accurate and early diagnosis will optimize care, improve the wellbeing of patients and their families and provide new insights into these devastating diseases, while potentially saving at least $28 million/year in health-care spending.