Genomic sequencing, a powerful ally against rare diseases

By UdeMnouvelles Mar 5th, 2025

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In 5 seconds UdeM geneticist Jacques L. Michaud leads the $7.2-million Quebec component of the $21-million Care4Rare-EXPAND project, which aims to improve the diagnosis of rare diseases through genomic sequencing.

In total, 15,000 genomes will be sequenced from data collected from families living with an undiagnosed rare disease.
Photo : Getty

Ending diagnostic uncertainty for thousands of families affected by a rare disease, via genome sequencing: that’s the ambition of the Care4Rare-EXPAND project, with the establishment of a federated database of more than 7,000 Canadian families.

Today, Genome Canada and its provincial partners announced $21 million in funding for this large-scale initiative as part of the Canadian Precision Health Initiative, of which $7.2 million goes to the Quebec component led by Dr. Jacques L. Michaud.

A professor of pediatrics and neurosciences at Université de Montréal, Michaud is a geneticist, researcher, director of the UdeM-affiliated Centre de recherche Azrieli du CHU Sainte-Justine, and director of the Centre québécois de génomique clinique.

Leveraging emerging genomic technologies and powerful data-analysis tools, Care4Rare-EXPAND promises to increase the diagnostic yield of genomic approaches for investigating rare diseases, in addition to being a strong driver of innovation.

It thus represents an important milestone in the drive by the Centre de recherche Azrieli to develop true precision health care by unlocking the full potential of genomics and data.

Jacques L. Michaud
Photo : Université de Montréal

In total, 15,000 genomes will be sequenced from data collected from families living with an undiagnosed rare disease. The data will reflect a diversity of genetic ancestries of people in urban, rural and remote areas, including French Canadians and English Canadians, members of Indigenous communities, and new Canadians.

The data will be integrated into the Genomics4RD databases (Alberta and Ontario) and the Centre québécois de données génomiques (Quebec), which will interface with the Pan-Canadian Genomic Library to facilitate their sharing with researchers in compliance with the most rigorous ethical and security standards.

Funded by Genome Canada, Genome Quebec, Santé Québec and Québec’s Ministère de la Santé et des Services sociaux, Care4Rare-EXPAND is led by hospitals in Alberta (Alberta Children’s), Ontario (Children’s Hospital of Eastern Ontario, Hospital for Sick Children), and Quebec (CHU Sainte-Justine, CHU de Sherbrooke, MUHC, CHU de Québec), with the support of three provincial genomic organizations (Ontario Genomics, Genome Alberta, and Génome Québec) and industry partners (Illumina, PacBio, ONT).

In Quebec, Care4Rare-EXPAND relies on the Réseau québécois de diagnostic moléculaire (RQDM), which federates molecular diagnostic laboratories, and Santé Québec's Centre québécois de génomique clinique, hosted at CHU Sainte-Justine. The participation of the RQDM will immediately allow for the transmission of sequencing results to patients, as well as the rapid evaluation and integration of new technologies into the services it offers.

Ultimately, the project is expected to lead to the discovery of new rare-disease genes, while also increasing the impact of genomic sequencing for the diagnosis of rare diseases in Quebec, in conjunction with the Plan d'action québécois sur les maladies rares 2023-2027.

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