Skip to content
About

Our mission

This research network aims to complement the clinical roadmap developed by the Comité consultatif québécois pour les maladies rares (CCQMR) for the MSSS, by harnessing the expertise of all Quebec centers and developing a provincial network to foster peer-to-peer learning and the sharing of knowledge, resources and capabilities to strengthen healthcare systems for rare diseases. Ultimately, this network will make Quebec a beacon of innovation in the field of rare diseases.

Objective

To promote and facilitate collaborative research on rare diseases in Quebec, in order to foster scientific innovation and statistical clarity on the burden that rare diseases represent for the Quebec population.

Strategic alignment to Quebec’s priorities

In June 2022, Quebec’s Health Minister (MSSS) published their policy on rare diseases, comprising 3 axes: While Axis 1 (Awareness and training) and Axis 2 (Facilitated and equitable access to diagnosis, care and services) are aligned with the health care purview of the MSSS, Axis 3 (Promotion of research, innovation and data collection) requires rare disease specific research expertise, experience and infrastructure. RARE.Qc specifically addresses this latter need, by unifying the expertise of all of Quebec’s rare disease specialists and developing a provincial rare disease network to define the epidemiology of rare diseases in Quebec, share rare disease specific data, resources, and capacities, and foster the capacity for trans-disciplinary and multi-institutional transformative research.

MSSS Rare disease reseach themes

The nomenclature of rare disease categories presented below is based on that created by the Ministry of Health and Social Services. The approximately 5,000 to 8,000 rare diseases listed worldwide are grouped into nineteen categories.

  1. Dysmorphic or polymalformative syndromes with or without associated neurodevelopmental disorders
  2. Autism, intellectual disability and other neurodevelopmental disorders
  3. Early-onset dementias, neurodegenerative diseases, and other rare central nervous system conditions
  4. Isolated hereditary heart diseases
  5. Immunodeficiency, rare autoimmune and systemic autoinflammatory diseases
  6. Rare vascular diseases with multisystem involvement
  7. Rare liver diseases
  8. Neuromuscular diseases and other rare peripheral nervous system disorders
  9. Rare dermatological diseases
  10. Rare endocrine diseases
  11. Inborn errors of metabolism
  12. Constitutional erythropoiesis disorders, hemostasis disorders, and other rare hematological conditions
  13. Cystic fibrosis and other CFTR gene-related conditions
  14. Rare respiratory diseases
  15. Rare kidney diseases
  16. Rare diseases of the bone, calcium, cartilage, and soft tissues
  17. Congenital deafness
  18. Rare retinal diseases and other rare eye conditions
  19. Rare diseases of the head, neck, and teeth