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FORGE Canada , Amer. Jour. Hum. Genet.

June 5, 2014 in Labwide Announcements

Of possible interest (http://www.cell.com/ajhg/pdf/S0002-9297(14)00223-7.pdf)

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 for

proposals, 264 disorders were selected for study from the 371 submitted; disease-causing variants (including in 67 genes not previously

associated with human disease; 41 of these have been genetically or functionally validated, and 26 are currently under study) were identified

for 146 disorders over a 2-year period. Here, we present our experience with four strategies employed for gene discovery and discuss

FORGE’s impact in a number of realms, from clinical diagnostics to the broadening of the phenotypic spectrum of many diseases to the

biological insight gained into both disease states and normal human development. Lastly, on the basis of this experience, we discuss the

way forward for rare-disease genetic discovery both in Canada and internationally.

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