About CARE for RARE

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The human genome is made up of approximately 22,000 functional units known as genes.  Mutations in these genes not only cause well recognized disorders such as muscular dystrophy and cystic fibrosis, but also thousands of other rare but nonetheless serious diseases impacting hundreds of thousands of Canadians (www.raredisorders.ca).  Many single-gene disorders are undiagnosed and most of these frequently serious conditions are currently untreatable; together they represent one of the greatest unmet medical challenges of the 21st century.  

Recently a new technology (called Next Generation Sequencing) has been developed which allows a person’s entire genetic code (22,000 genes) to be analyzed rapidly at reasonable cost. This new type of DNA sequencing has revolutionized the study of rare genetic diseases because it is now possible to find disease-causing genes using a relatively small number of patients.

CARE for RARE is a collaborative team of clinicians, informaticians, 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.