Rare diseases are usually not the focus of research laboratories, which greatly limits our ability to discover effective therapies. We can gain insight into most rare human diseases by analyzing the equivalent genes and pathways in experimental organisms, because nature uses the same building blocks to construct organisms such as yeast, worms, flies, fish, mice and humans. This approach will underpin the RDMM Network, which is led by Drs. Phil Hieter, Kym Boycott and Janet Rossant.
"Our efforts will build on Canada's proven leadership in rare disease gene discovery through national engagement," said Hieter, senior scientist at the University of British Columbia. "We will mobilize the entire Canadian biomedical community of clinicians and model organism researchers to communicate and connect, integrate and share their resources and expertise, and work together to provide functional insights into newly discovered rare disease genes."
The RDMM Network includes all basic science researchers studying gene function in model systems and clinician scientists discovering novel disease genes in Canada. It will study biological mechanisms underlying rare diseases at the levels of genes, pathways and networks by analyzing the equivalent (orthologous) genes in the five model organisms.
"The key to success will be increased collaboration between clinicians and scientists as early as possible following the discovery of new gene mutations that cause disease," said Boycott, senior scientist at the Children's Hospital of Eastern Ontario (CHEO) and associate professor in the University of Ottawa Faculty of Medicine. "Our goal is to better understand new aspects of human biology and disease and identify therapeutic pathways that might lead to the development of new treatments for rare disease patients."
The RDMM Network, through its scientific advisory committee, will fund at least 24 catalyst projects annually. Its goals are to validate genetic variants that cause disease, advance understanding of disease mechanisms, create the rationale for treatment (e.g., identification of candidate drug targets) and establish longer-term collaborations between scientists and clinicians that will lead to subsequent funding of outstanding laboratory and/or applied research.
"Together, with our partners at Genome Canada, the Canadian Institutes of Health Research is proud to support the RDMM network, to advance efforts in rare disease research," said Dr. Paul Lasko, scientific director of the CIHR Institute of Genetics. "Their work will guide the development and improvement of treatments and therapeutics for the more than 350 million people worldwide who suffer from a rare disease."
Provided by Children's Hospital of Eastern Ontario Research Institute
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