July 29, 2014
Launched on 1st April 2011, the outcome of Canada’s national rare disease gene discovery consortium (FORGE) 2-year project, led by Dr. Kym Boycott, was recently announced and reported in the American Journal of Human Genetics. The consortium, composed of 170 rare disease experts from 17 countries, aimed to identify genes associated with a broad range of early-onset single-gene rare disorders in the Canadian population. Throughout the 2-year project, 264 rare disorders were studied based on whole-exome sequencing of 783 collected DNA samples. Disease-causing mutations were identified in 67 genes not previously linked to disorders. Identified novel genes contribute towards understanding the biological mechanisms of rare diseases.
The authors observed that mutations in separate genes, implicated in similar biological pathways, can either result in syndromes with common features or they can cause very distinct diseases. The investigators also discovered that a number of disease-causing gene mutations are often not picked up using traditional methods, which strengthens evidence on the benefits of whole-exome sequencing techniques. Understanding these pathways will contribute towards finding new therapies for rare diseases. Presented at ECRD 2014, FORGE’s successor, Care4Rare, will continue to investigate new genes, diagnostic techniques and therapeutic avenues for rare diseases.