Pr Nicolas Pilon
Professor, Université du Québec à Montréal
Senior research scholar of FRQS
Research Chair in Rare Genetic Diseases
It is an honor to present to you the Centre d’Excellence en Recherche sur les Maladies Orphelines – Fondation Courtois (CERMO-FC).
By combining collective and individual skills, the CERMO-FC specifically aims to improve diagnosis and develop treatments for several orphan diseases – which are by definition pathologies that do not benefit from efficient therapies. Most orphan diseases are rare diseases, most of which being life-threatening and affecting children. There are more than 7,000 rare diseases worldwide, and 80% of them have a genetic origin. In the Quebec province alone, about 500,000 people are affected. Due to a lack of studies about them, rare diseases are not only difficult to treat, but also to diagnose, resulting in a direct negative impact on patient’s care.
The researchers, students and trainees of the CERMO-FC make every effort to improve the knowledge about orphan diseases. Their goal is to identify therapeutic targets that will then be used to improve medical care and quality of life of affected individuals. Our members are internationally recognized experts in their respective field, with many also being research scholars of the Fonds de la Recherche du Québec – Santé (FRQS) and / or the recipient of a Research Chair. They invest a lot of time for training the next generation of researchers as they believe that an efficient research training today will expand the number of experts about orphan diseases tomorrow.
Taking advantage of 6 technological platforms, the CERMO-FC encourages translational research about orphan diseases, from the development of new knowledge through basic research to application of this knowledge in clinical practice. Our infrastructures include cutting edge facilities for:
- Cellular analyses
- Transgenic and genome editing
- Biophysics and biomolecular screening
- Mass spectrometry
The CERMO-FC thereby offers its members, as well as external researchers, opportunities to create new transdisciplinary collaborations.
Finally, I would like to especially thank the Fondation Courtois for the major donation that allowed the creation of the CERMO-FC, and thereby contributes to promote excellence in research on orphan diseases.