Source: FORGE Canada Consortium

Genetic diseases in children, while often rare, have, in aggregate, an enormous impact on the well-being of Canadian families. Surprisingly, the majority of genes causing these conditions are still unknown. FORGE Canada (Finding of Rare Disease Genes) is a national consortium of clinicians and scientists using next-generation sequencing technology to identify genes responsible for a wide spectrum of rare pediatric-onset disorders present in the Canadian population.

The Consortium brings together clinicians from all 21 Clinical Genetics Centres representing every province and internationally-recognized Canadian scientists with expertise in gene identification, with the infrastructure of the Genome Canada Science and Technology (GC S&T) Innovation Centres. International collaborations have been established with clinicians in 16 countries. Two nation-wide requests for proposals have resulted in 175 disorders that met FORGE criteria; 70 of these rare disorders have been selected for study over the 18 months of this project. These disorders range from those affecting single families, to disorders with 20+ patients from across Canada and internationally recruited through the FORGE network. Twenty of these disorders were prioritized for analysis in the first quarter; 9 genes have been identified and analysis is still underway for the remaining 11 disorders. We are establishing a national data coordination centre to streamline and improve existing large-scale sequence analysis tools and our GE3LS team is working toward national ethical guidelines for analyzing sequence data from entire genomes and for sharing results with families.

Gene discoveries made by the FORGE Canada Consortium will have immediate and long-term benefits for the health of Canadians through translation to diagnostic tests, including the development of new methodologies and algorithms for the use of this technology. Within the first three months, we have identified 9 genes; 6 of these are novel genes that were previously not linked to human disease thereby providing insight into the molecular pathogenesis of these disorders. Successful completion of the activities of the FORGE Canada project will yield a coordinated and sustainable Consortium focused on the investigation of the genetic basis of human disease.