Rare Disease Day: Shaping Solutions Together

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

Rare Disease Day is a global campaign observed at the end of February each year to raise awareness about 7,000Footnote 1 plus rare diseases. The aim is to show the impacts of rare diseases (RD) and highlight the need for improved diagnosis, equitable access to medical and social support, as well as supportive policies and research.

Rare Disease Community - Listening to Their Voices

Rare disease patients and caregivers experience rare disease daily. Forming working relationships with patients creates partnerships that allows them to share their expertise and be engaged throughout the research process. Partnerships can help ensure that research is relevant and impactful. IG continues to support and encourage researchers to explore how to create supportive and diverse patient partnerships.

Patient partners can assume additional responsibilities, such as their recent involvement in the peer review process for several IG funding opportunities under the Rare Disease Research Initiative. Building on these experiences, we are working to develop new guidance on how to best support patient partners as peer reviewers for health research funding.

Advancing RD research

Rare Disease Day is not just one day at IG. As part of our priorities, IG has helped build a solid foundation focusing on rare disease through the CIHR Rare Disease Research Initiative as part of the National Strategy for Drugs for Rare Diseases.

Through this initiative, awarded researchers will work towards making advances in four key areas to better the lives of people with rare diseases:

  1. Investigate ways to reduce delays in diagnosis by using genomic testing (looks at our DNA, our body’s blueprint) and determine the best practices for genetic testing
  2. Improving how Canada tracks and monitors rare disease data, allow for better sharing between researchers and healthcare professionals and capturing the impact of RD on the healthcare system.
  3. Close the gap between RD research and clinical trials for gene therapies
  4. Put in place a national pediatric clinical network to foster collaborations between the RD community, researchers, and other RD partners, creating pathways for pediatric RD clinical trials in Canada.

The Power of More: Advancing Progress Through International Collaborations

IG continues to work towards creating opportunities that will foster collaborations in the international RD community. We are now participants with the European Rare Disease Research Alliance (ERDERA), allowing Canadian RD researchers to form new collaborations, explore new opportunities and share knowledge that can lead to new advances in RD diagnosis and treatment.

Rare Disease Day

Thank you to all the patient partners, researchers, and all those involved at CIHR in trying to improve the lives of RD patients and caregivers. Help lift the voices of the millions of RD patients throughout the world by raising awareness on February 28, 2025.

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