While there are more than 7,000 rare diseases, a total of 2.5 million Canadians are affected, including more than 500,000 people in Quebec. The IRCM is proposing to establish on its premises a Research centre on rare and genetic diseases in adults, a unique centre that will allow the Institute to position itself as a national leader. In addition to providing access to specialized care, the initiative will lead to the development of a model for clinical follow-up to ensure the transition from pediatric to adult care. Furthermore, this initiative will not only allow the institute to conduct research on rare diseases, but will become a central component of the translational research program required to better understand these diseases and, as a result, develop new treatments.

Biomarkers track the evolution of physiological conditions in normal health and disease, being powerful diagnostic and prognostic tools for precision medicine. The biomarker discovery pipeline at the Montreal Clinical Research Institute integrates a number of leading-edge technologies for monitoring changes in biomarkers, including their amino acid modifications (PTMs and mutations), their interactions with other cellular components, and their abundance levels. The biomarker discovery pipeline team collaborates with many groups both in Canada and internationally on various biomarkers-related projects.