FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

ABSTRACT: Inherited monogenic disease has an enormous impact on the well-being of children and their families. Over half of the children living with one of these conditions are without a molecular diagnosis because of the rarity of the disease, the marked clinical heterogeneity, and the reality that there are thousands of rare diseases for which causative mutations have yet to be identified. It is in this context that in 2010 a Canadian consortium was formed to rapidly identify mutations causing a wide spectrum of pediatric-onset rare diseases by using whole-exome sequencing. The FORGE (Finding of Rare Disease Genes) Canada Consortium brought together clinicians and scientists from 21 genetics centers and three science and technology innovation centers from across Canada. From nation-wide requests f

SUBMITTER: Beaulieu CL 

PROVIDER: S-EPMC4121481 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature