2018 Success Stories: Canada’s national gene discovery programs exceeded expectations
Message from Dr. Christopher McMaster

When I look back at the accomplishments that we have achieved since I became Scientific Director of CIHR’s Institute of Genetics in July, I can definitely say that my first half year has held many surprises.

The Rare Diseases: Models and Mechanisms Network (RDMM) constitutes yet another example of the Institute of Genetics’ (IG) leadership in the inherited disease research area. The Network fosters collaboration between clinicians identifying those new genes and biomedical researchers who can study the mechanisms underlying the diseases in suitable animal or cellular models.

Since the launch of this program, they are progressing at a higher success rate than anticipated, largely because of the international uptake of the Matchmaker Exchange initiative. Matchmaker has accelerated the identification of additional families with the same rare disease

Because of the unmet need and the importance of this program for patients, most of whom are infants or children, IG increased the funding of the RDMM to sustain its activities longer in the last year of its funding. 

We also launched a new iteration of the program in collaboration with the Institute of Nutrition, Metabolism and Diabetes and Genome Canada. As the network, the first of its kind worldwide has inspired similar initiatives in Europe, Japan, and Australia, international linkages with these emerging networks is a novel and important aspect of this second call for applications.

Looking forward, this will allow Canadian clinicians and researchers to maintain their international leadership role, as well as foster the establishment of international collaboration for the genes, for which no suitable model can be identified in Canada: all of which will directly benefit patients.

Why is inherited gene discovery important? It allows for a DNA test for the disease, that can be developed immediately, which reduces the diagnostic time from several years to around a month.  It also enables more accurate genetic counselling for patients and family members, and it provides insight into the molecular basis of the disease - the first step required to find a treatment or cure.

As we look to the future, I foresee IG playing an even greater catalyst role, creating the conditions that bring together experts across a broad range of disciplines, as they collaborate for better health, examining the issues facing our constituency through multiple lenses and working together to achieve the best outcomes for Canadians.

The team at IG is united in our objective to remain focused on building the capacity of our research partners in order to successfully resolve today’s concerns and tomorrow s challenges.

Christopher McMaster

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