Orphan diseases
In Quebec, approximately 500,000 people are suffering from one of the 7,000 orphan diseases that exist worldwide. Theses neglected diseases, generally rare and fatal, share a lack of effective therapy. This is due to a global deficiency of scientific knowledge, which results in wide negative impacts on patient care and enormous costs for society. The CERMO-FC is a leader among the growing number of initiatives implemented to address this major public health problem. As a multi-institutional center, the CERMO-FC distinguishes itself by studying several orphan diseases across the entire continuum of biomedical / biopharmaceutical research.
Inspiring research
By linking basic research to clinical needs, CERMO-FC’s mission is to improve healthcare for individuals suffering from orphan diseases. Such translational approach is possible owing to the complementary expertise of CERMO-FC members in various fields of biomedical/biopharmaceutical sciences.
Without neglecting the identification of disease causes, CERMO-FC’s research objectives are mainly focused on elucidating involved mechanisms and developing adapted therapies, with the goal being the transfer to clinical trials.
Benefits for society
- Demystification of orphan disease-associated issues for the general public.
- Establishment of bridges between different sectors of life sciences (academic, clinical, industry).
- Improvement of orphan disease diagnosis/prognosis through biomarker discovery.
- Development of therapies that enhance survival and/or quality of life of individuals with an orphan disease.
- Creation of new scientific knowledge about orphan diseases that also largely benefits to disorders that are more common.
- Consolidation of the personalized medicine concept, where every patient can be seen as suffering from a unique disease.
Example projects
Regenerative medicine
Hirschsprung disease is a rare genetic disorder characterized by the lack of neurons in the colon wall, leading to lethal constipation. Most affected children survive this condition owing to a major surgery, but many develop severe long-term sequelae. Thanks to mouse models developed at the CERMO-FC, our researchers have developed a revolutionary therapeutic approach for regenerating the nervous system in the colon, and thereby potentially avoid the need for surgery. This has led to the creation of a spin-off company that will validate this discovery through clinical trials in humans.
Innovative nanovaccines
Vaccination prevents the spread of infectious diseases and opens new perspectives for the treatment of cancers. The emergence of new viruses and the lack of effective and affordable vaccines for many diseases constitute an endless issue. CERMO-FC’s researchers have recently developed an immunostimulating nanotechnology for the formulation of subunit vaccines. These nanovaccines are currently being evaluated against neglected (Zika) and common (influenza) viral infections.
Partnerships
Fondation Courtois; Fondation du Grand défi Pierre Lavoie; Regroupement québécois des maladies orphelines; Réseau québécois de la recherche sur le médicament; Montreal InVivo; CHU Ste-Justine; CIUSSS du Saguenay-Lac-Saint-Jean
Keywords
Orphan diseases | Rare diseases | Interdisciplinary research | Pathogenic mechanisms | Biomarkers | Therapeutic targets | Personalized medicineTo find out more
Centres institutionnels Centre d’excellence en recherche sur les maladies orphelines – Fondation CourtoisDirector
Nicolas Pilon, professor Department of Biological Sciences514-987-3000 poste 2677
