Rare Diseases

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 22 rare disease projects, representing a total investment of more than $44 million in research, including $14 million funded by the Ministère de l’Économie, de l’Innovation et de l’Énergie (MEIE) through Génome Québec.

Here is the list of rare disease research projects:

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 June 2024, Génome Québec and Cystic Fibrosis Canada launched the Targeting Rare, Orphan CFTR Mutations competition. The aim of this initiative is to support research into rare mutations that do not respond to current treatments and to develop new adapted therapies.

Program details: Génome Québec and Cystic Fibrosis Canada partner to launch: Tackle rare, orphan CTFR mutations | GénomeQuébec inc.

Innovative Therapies for Hereditary Ataxias: Partnership with Ataxia Canada and Muscular Dystrophy Canada

Investissement total de plus de 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 | GénomeQuébec inc.

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:

  1. Development of a rapid clinical whole genome sequencing program, available to all seriously ill newborns and children in hospital care in the province.
  2. 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

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.