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News Release: Harper Government Takes Action to Help Canadians with Rare Diseases

CIHR Funding: In-kind support. Through the Institute of Genetics, CIHR is providing a project manager/information scientist; appropriate computing and peripheral equipment; office space and infrastructure; and some costs related to travel for the project manager and national coordinator.

A rare disease is defined as one that affects one person out of 2,000 (or fewer). There are over 7,000 known rare diseases, which affect an estimated one in twelve Canadians. Patients with a rare disease face significant challenges, ranging from a correct diagnosis to the availability of treatment and care.

Orphanet provides a reference portal for individuals with rare diseases, as well as their health service providers. Orphanet is led by an expanding consortium of over 35 countries, coordinated from France. The French coordinating team is responsible for the infrastructure of Orphanet, management tools, quality control, the rare disease inventory, classifications, and the production of the encyclopedia.  National teams (such as Orphanet-Canada) are responsible for the collection of information on specialised clinics, medical laboratories, ongoing research, and patient organisations in their country.

The goal of Orphanet is to provide the community at large with comprehensive information that will contribute to the improvement of the diagnosis, care, and treatment of patients with rare diseases.

Canadian national objectives are to:

  1. Create a national entry site to Orphanet: Next link will take you to another Web site Orphanet-canada
  2. Comprehensively document resources available in Canada: expert centers, medical laboratories, patient organisations, research projects, clinical trials, and registries and biobanks; and
  3. Conduct outreach to all stakeholders of the Orphanet-Canada project and facilitate exchanges between groups of stakeholders.

About the Canadian Institutes of Health Research (CIHR):
CIHR is the Government of Canada's health research investment agency. CIHR's mission is to create new scientific knowledge and to enable its translation into improved health, more effective health services and products, and a strengthened Canadian health care system. Composed of 13 Institutes, CIHR provides leadership and support to more than 14,100 health researchers and trainees across Canada.

About the CIHR Institute of Genetics (IG):
IG supports research on the human genome and in all aspects of genetics, basic biochemistry, and cell biology related to human health and disease, including the interaction of genes with physical and social environments.