Supporting Canadian Families Living with Rare Diseases

Rare diseases generally affect a small percentage of the population. Most are genetically-based and therefore, those affected live with the disease for their entire lives even if symptoms aren’t immediately present. In many cases, patients and their families endure these diseases (most of which the average person has not heard of) alone, while struggling to find diagnosis and treatment options. Our Government recognizes the challenges faced by this group and is undertaking to improve their lives through new research.

There are over 7,000 rare diseases. A rare disease is defined as one that affects one person, or fewer, out of 2,000. An estimated one in twelve Canadians lives with a rare disease; one example of such a disease would be Fabry disease, which affects many organ systems and results in reduced life expectancy. Patients with rare diseases often face many significant challenges including correct diagnosis, treatment, and care. Furthermore, these types of diseases pose challenges for effective health policy and service delivery with uncertainty about approaches to product regulation, assessment and coverage decision-making, as well as the organization of care for complex and poorly understood needs. Research is needed to respond to all of these challenges.

Since 2006, our Government has remained committed to improving the life of Canadians and recognizes the importance of supporting individuals and their families contending with rare diseases. On February 29, 2012, our Government announced new research that will help improve the health of this group. Funding research in rare diseases, such as Fabry disease, will allow for clinical research trials involving gene therapy to be conducted to ultimately establish an effective treatment for rare diseases.

Our Government is supporting nine interdisciplinary research teams to address these issues. There are two types of teams being funded: i) teams focused on the basic biology, and/or undertaking clinical research, and/or conducting research on the populations affected by the rare disease and ii) teams focused on health services, policy, economics, and/or ethical, legal, or social issues related to rare diseases.

The overall objective of the new research is to transform fundamental biological research into medical practice and treatments in the area of rare diseases. This announcement demonstrates our Government’s commitment to improving our health care system with the ultimate goal of saving lives and improving the well-being of all Canadians. It is a commitment we’ve continued to live up to over the last six years and one that we will always strive towards.