Rare diseases: genomics at the service of patients
Rare diseases affect almost 700,000 people. Of these, 30% of young patients die before the age of 5.
To find out more, here’s a short, highly instructive video on the subject!
Génome Québec’s commitment
Over the past 25 years, Génome Québec has managed 35 rare disease projects, representing a total investment of more than $55 million in research, including $17.3 million funded by the Ministère de l’Économie, de l’Innovation et de l’Énergie (MEIE) through Génome Québec.
- Nancy Braverman:
- Jacques L. Michaud :
- Éric Lécuyer et Pascal Chartrand :
- Éric Samarut et Martine Tétreault :
- Paul Goodyer :
- Jo Anne Stratton :
- Ma’n Zawati :
- François Rousseau :
- Rafik Tadros :
- Karine Tremblay :
- Julie Gauthier :
- Felix Ratjen et Bartha Maria Knoppers :
- Kym Boycott et Jacques L. Michaud :
- Kym Boycott et Bartha Maria Knoppers :
- Alex Parker :
- Donald Vinh et Vincent Ferretti :
- Luigi Bouchard
- Benoît Gentil
- John Hanrahan
- Larry Lands and Jacques P. Tremblay
- Simon Girard
- Steven Kembel et Nicolas Pilon
- Sébastien Lévesque
- Thomas Durcan
- Natalie Matthews
Thanks to new genomic technologies, we can now make a genetic diagnosis for 36% of children with rare diseases in just 28 days (on average). This breakthrough means that we can:
- Adaptation of clinical management in 60% of cases
- Support for families in 31% of cases
By investing in research and working with its collaborators, Génome Québec supports all aspects of research, from population screening to diagnosis and the discovery of new treatments.
A network of strategic partnerships to accelerate research
Génome Québec works closely with several organisations and institutions to support innovation in genomics and accelerate the development of therapies for rare diseases. Recent initiatives include:
Tackle rare cystic fibrosis mutations: Partnership with Cystic Fibrosis Canada
Joint investment of $1.2 million
In March 2025, Génome Québec and Cystic Fibrosis Canada announced a research investment in two projects focusing on rare genetic mutations that are linked to cystic fibrosis and that do not respond to current treatments. The projects have the long-term goal of developing new adapted therapies.
To learn more about this research investment: Génome Québec and Cystic Fibrosis Canada invest $1.2 million in research tackling rare, orphan CFTR mutations
Support for the network to advance research on rare diseases in Québec (RARE.Qc)
Total investment of over $750,000
In February 2025, Génome Québec, in collaboration with RARE.Qc, the CHU Sainte-Justine, and the Fonds de recherche du Québec – Santé (FRQS), adapted the Centre québécois de données génomiques (CQDG). Together, they are creating a world-class infrastructure for data sharing, accelerating diagnostics and treatments for rare diseases.
Learn more: Génome Québec invests over $750,000 to support the RARE.Qc network’s activities
Innovative Therapies for Hereditary Ataxias: Partnership with Ataxia Canada and Muscular Dystrophy Canada
Total investment of over $850,000
In March 2024, Génome Québec, in collaboration with Ataxia Canada and Muscular Dystrophy Canada, funded several projects aimed at developing innovative therapies for hereditary ataxias. This competition is part of Axis 3 of the plan d’action québécois sur les maladies rares, which focuses on promoting research and innovation.
To find out more about the latest results of this partnership: Funding innovative projects to counter hereditary ataxias
PRAGMaTIQ: an example of a revolutionary advance in the diagnosis of rare diseases in all children under the age of 18 in Québec
One of the flagship projects supported by Génome Québec is PRAGMaTIQ, directed by Jacques Michaud. This project is tackling one of the major challenges of diagnosing rare genetic diseases in seriously ill newborns and children.
Why is this project so important?
The precise diagnosis of rare genetic diseases in toddlers is often very difficult, because their symptoms are:
- Non-specific
- Different from those observed in older patients
PRAGMaTIQ project goals:
- Development of a rapid clinical whole genome sequencing program, available to all seriously ill newborns and children in hospital care in the province.
- Implementation of this program in the Québec healthcare system, to improve access to early genetic diagnosis.
Thanks to this innovative project, Québec could become a leader in the integration of rapid genomic sequencing in paediatrics for all children suspected of having a rare disease, facilitating informed clinical decisions and appropriate management from the very first days of life.
A structuring policy framework
The Plan d’action québécois sur les maladies rares 2023-2027, wich stems from Politique québécoise pour les maladies rares (2022), aims to :
- Improving access to diagnosis and care thanks to advances in genomics
- Improving training and awareness among healthcare professionals
- Promoting research and innovation to accelerate the development of new therapies
These initiatives will enable better coordination of efforts between the various players in the Réseau québécois de diagnostic moléculaire and encourage the development of specialist reference centres.
In the media
- Le dépistage des maladies rares bientôt élargi | La Presse
- Maladies rares : Génome Québec accorde plus de 800 000 $ à deux chercheurs | Radio-Canada
Regional initiative
About CORAMH: The Corporation for Research and Action on Hereditary Diseases (CORAMH) is a regional non-profit organization that has been working in the field of hereditary diseases in the Saguenay-Lac-Saint-Jean region (Quebec, Canada) since 1980.
Goal: […] To provide the region (of Saguenay-Lac-Saint-Jean) with an independent organisation whose objective would be to find solutions to the health problems linked to the presence of hereditary diseases in the region.