Addressing Challenges in the Diagnosis and Treatment of Rare Genetic Diseases

The past 5 years have seen an unprecedented rate of discovery of genes that cause rare diseases and with it a commensurate increase in the number of diagnosable but nevertheless untreatable disorders. Here, we discuss the increasing opportunity for diagnosis and therapy of rare diseases and how to tackle the associated challenges.

Lead Researchers

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  1. Kym M Boycott

    Senior Scientist, CHEO Research Institute

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