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Canada Aims to Catalyze Rare Disease Gene, Model Organism Collaborations

NEW YORK (GenomeWeb News) – The Canadian Institutes of Health Research and Genome Canada plan to provide C$2.3 million (US$2.2 million) to fund a national network to help clinical researchers studying genes involved in rare diseases to partner with experts in model organisms, CIHR said yesterday.

The aim of the Research Catalyst Network: Rare Diseases initiative will be to support collaborations between clinical geneticists who are identifying rare disease mutations and model organism researchers who have expertise in gene function, because such models provide an efficient way to characterize gene function.

Although causative genes for human genetic diseases "are now being discovered at a remarkable rate," CIHR said, there are many genes that have been the subject of much study but which still have unknown functions.

Model organisms like C. elegans, Drosophila, zebrafish, and mice are excellent tools for validating such putative disease genes, and Canada has a strong research base in these models, but so far these research communities have "only sporadically" worked with geneticists who deal directly with patients who have rare diseases, CIHR said.

The national network funded under this program will aim to connect these two groups of researchers and catalyze studies of the functions of these genes.

It will identify instances where Canadian model organism expertise is relevant to newly discovered disease genes, and will then launch projects to functionally characterize that gene. CIHR expects that it will support around 15 to 20 such catalytic research projects per year. The network also will seek to implement innovative translational strategies and efforts to link the clinical genetics and model organism research communities together.

This research network will involve significant representation from both the clinical rare disease genetics research community and model organism communities. It also will launch a process to recruit and integrate new members, and develop a process for initiating research projects that catalyze research into the functional characterization of rare disease genes and mutations.

CIHR said the grant will provide C$700,000 per year for three years and C$200,000 for a fourth year, and that Genome Canada will provide C$200,000 of the total funding.

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