Rare Diseases: An ongoing and under-recognized global health concern

Dr. Christopher McMaster, Scientific Director, CIHR Institute of Genetics

The last day in February (this year the 28th, or 29th on a leap year) is Rare Disease Day; the rarity of this day provides an opportunity to bring visibility to rare diseases (RDs) and the impacts faced by millions of people worldwide.

Rare Diseases constitute an ongoing and under-recognized global health concern. Indeed, RDs are far from rare; it is estimated that 1 in 25 children are born with an RD, and most have a pediatric onset. Recent research has determined that the majority of pediatric hospital beds are occupied by a child with a rare disease, which are the most common cause of childhood death.

Here in Canada, a major challenge posed by RDs is the invisibility of these conditions within our health data systems as RDs are not routinely accounted for in hospital or administrative records. Consequently, our ability to accurately determine resources that could and should be allocated to RD diagnosis, care, and research is severely constrained by this lack of data that could otherwise generate consistent and prospective evidence regarding mortality, morbidities, direct and indirect costs to the healthcare system, as well as knowledge to inform the sociological, economic, and psychological impact of RDs on patients and their families.

Through targeted funding opportunities and ongoing partnerships with research consortiums such as the European Joint Programme on Rare Diseases, the CIHR Institute of Genetics is working with patients, caregivers, researchers, and clinicians to determine the magnitude of the impact of RD that will benefit those who live in Canada and around the world. 

Join us in recognizing Rare Disease Day 2022 by visiting the Rare Disease Day website to learn some truly staggering facts that demonstrate how rare diseases are a critical challenge that Canadian researchers must work hard to tackle.

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