Care for Rare

CARE for RARE is a pan-Canadian collaborative team of clinicians, bioinformaticians, scientists and researchers building upon the infrastructure and discoveries of the FORGE Canada (Finding of Rare Disease Genes) project (April 2011-March 2013, Genome Canada and Canadian Institutes of Health Research), which to date has solved more than 77 disorders using this new sequencing technology. The goal of CARE for RARE is to improve clinical care for patients and families affected by rare diseases.  This will be done by expanding and improving the diagnosis and treatment of rare diseases. 


  1. To use next-generation DNA sequencing to identify disease-causing genetic changes underlying rare genetic disorders affecting Canadian families. 
  2. To facilitate the integration of this type of testing into the clinic.
  3. To initiate a low cost and rapid computer and laboratory experiment-based exploration of therapies.  We will test drugs that are currently in clinical use and expect that our analysis will identify compounds for clinical evaluation.
  4. To promote and contribute to the agenda of rare diseases in Canada through our role in Orphanet-Canada and as a facilitator and stakeholder of a Canadian Plan for Rare Diseases. Our team will engage with Health Canada to explore the regulatory and scientific issues associated with the introduction of novel therapies for rare disorders into the clinic where insufficient patient numbers preclude a classic clinical trial approach.
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