Network brings scientists together to increase Canada’s understanding of rare diseases

“We wanted to set up an efficient system that would allow us to link a Canadian clinician investigator with a Canadian basic scientist at the time of disease gene discovery. These collaborations will increase our understanding of disease gene function, ultimately facilitating the development of rational approaches to disease prevention and treatment.”
– Drs. Kym Boycott, Philippe Campeau, and Phil Hieter (from left to right)

Names: Phil Hieter, Kym Boycott, Philippe Campeau
Primary role: Co-Directors
Primary institution: University of British Columbia

There are more than 7,000 rare diseases affecting over 300 million people globally. About 80% of these diseases result from the mutation of a single gene. While Canada is a leader in identifying gene mutations, collaboration between clinical scientists who discover new rare disease genes and basic scientists who conduct functional analysis of genes is essential to increase understanding of how these mutations impact a person’s health. Orthologous genes are genes found in different species that evolved from a common ancestral gene. These genes usually retain similar functions in the organisms in which they are found. So, by studying these conserved genes in various animals such as yeast, worms, flies, fish, and mice, scientists can study the consequences of human gene mutations in these model organisms.

Drs. Phil Hieter, Kym Boycott, and Philippe Campeau recognized this opportunity. In 2014, they founded the Canadian Rare Diseases: Models and Mechanisms Network. This platform links clinician scientists with basic researchers to study the effects of patient-specific gene mutation(s) in experimental model organisms, revealing the cause of diseases, potential therapies, and fostering long-term collaborations.

The network is built around a web-based registry of 690 Canadian scientists with expertise in orthologous genes representing 9,787 human genes. As of October 2023, it has supported 118 clinician-basic scientist partnerships and funded more than 150 projects to study and understand the functions of genes to better understand their role in biological processes and disease. The network has also expanded globally, partnering with organizations, and establishing networks in Australia, Japan, and Europe.

Date modified:

2023-12-04