Rare genetic diseases in children have an enormous impact on the well-being of Canadian families, causing birth defects, intellectual disability, abnormal growth, or organ failure. This project established a national consortium: FORGE (Finding of Rare Disease Genes) Canada, made up of clinicians and scientists who worked together to identify hundreds of genes responsible for genetic disorders that affect children in this country and throughout the world using next generation sequencing technology. Of the 149 molecular diagnoses identified or strongly implicated in serious medical disorders by the end of the project, 52 are novel genes that were not previously linked to human disease, thereby providing new insight into the molecular pathogenesis. The success of FORGE helped enable the development of other projects, such as Care4Rare, which was awarded $11M in funding in 2013 as a CIHR/Genome Canada Large-Scale Applied Research Project in Genomics and Personalized Health, and Rare Diseases: Models & Mechanisms Network, which was awarded $2.3M in 2014 with contributions from CIHR, Genome Canada, and Genome BC. The FORGE Consortium, which included more than 150 members, brought clinicians from all 21 Canadian clinical genetics centres into effective collaborations with the Genome Canada Science and Technology Innovation Centres. International collaborations were also established with clinicians in 17 other countries. At the same time, FORGE successes have placed Canada as an international leader in the investigation of the genetic basis of rare disease.