Rare diseases: More common than you think 

Newswise — In Canada, 1 in 25 children is born with a rare disease. One-third of those children will not reach their 5th birthday.

Collectively, rare diseases are a major contributor to childhood mortality and disease in Canada, accounting for approximately 40% of pediatric health care costs. There are about 7,000 rare diseases, all with one thing in common: a mutation in a single gene. Sadly, 95% still have no effective treatment--a challenge that Canadian researchers are working hard to tackle.

World Rare Disease Day is February 29, and two CIHR representatives are available to answer your questions:

  • Dr. Christopher McMaster, Scientific Director of CIHR’s Institute of Genetics, is available to talk about the Institute’s work in the field of rare-disease research.
  • Dr. Étienne Richer, Associate Director, CIHR Institute of Genetics, is available to speak about rare-disease research and the importance of improving treatments for Canadians living with these illnesses.

To book an interview, please contact:

David Coulombe

Media Relations

Canadian Institutes of Health Research


[email protected]


At the Canadian Institutes of Health Research (CIHR), we know that research has the power to change lives. As Canada's health research investment agency, we collaborate with partners and researchers to support the discoveries and innovations that improve our health and strengthen our health care system.

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