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Mutations in the human genome can cause rare diseases. In Canada, one in 12 people are affected by a rare disease — about two-thirds of them are children. 

Identifying a gene mutation that causes a human disease is a breakthrough discovery, but to realize benefit to patients, it is necessary to study the basic function of the gene and the functional consequences of the disease-causing gene mutations in a biological context. Insight into most rare diseases can be gained by studying the equivalent genes and pathways in a model organism because nature reuses the same building blocks to construct organisms as different as yeast, worms, flies, fish, mice and humans.  

Through this project, the team established the Canadian "Rare Diseases: Models and Mechanisms" (RDMM) Network. A national network aimed to build connections and fund research projects between clinicians and model organism researchers to share their resources and expertise and work together to provide functional insights into newly discovered rare disease genes. 

This project created an open source registry of more than 500 Canadian model organism scientists, that represent expertise for over 7,500 human genes. They also created a Clinical Advisory Committee and Scientific Advisory Committee to evaluate new genes identified by clinicians and to match them to model organism researcher’s expertise in the Network Registry.  After making a connection, the Network offers Catalyst Grants, a $25,000 award for collaborative research between the clinician and model organism researcher, to further investigate the gene function, disease mechanism, or possible therapeutic targets.   

The RDMM Network has so far made 98 connections between clinicians and model organism researchers and funded 86 projects through Catalyst Grants, including nine follow on projects and five co-funded projects with Rare Disease foundations. The RDMM Network has also been working with networks in Japan, Europe, Australia and the US to build an international network of networks and make international connections. The Canadian RDMM Network has received further funding to continue its work and is currently funded until 2026.