The Study of Drugs for Rare Disorders: Harnessing Research Contributions by Canadian Academic Institutions

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Stuart MacLeod
Paul Lasko
Alex MacKenzie


University research, academic, rare disorders, pharmacogenomics, clinical trials, implementation science


Genetic research in Canadian universities is in the midst of a revolution brought about by new technologies that have led in the past five years to astonishing increases in DNA sequencing capacity at a reduction of per - nucleotide cost of many thousand fold . 1 These and other developments are producing an improved understanding of the genetic landscape of the cell , 2 and increased insight into the interplay of genetic and environmental factors. These are often manifested in epigenetic changes, which can now also be monitored using high - throughput techniques , 3 and which regulate physiologic and pharmacologic processes. Continued progress in the academic setting is critical if Canada is to meet its share of research responsibilities and to use this improved scientific understanding to support optimal patient care.

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