Driving innovation in rare disease research: The Institute and RARE.Qc

New funding from Génome Québec will strengthen rare disease data infrastructure, accelerating research and discoveries

For millions of people living with a rare disease, diagnosis is often a long and uncertain journey. Many conditions remain poorly understood, with limited treatment options and few experts specializing in their care. Based at The Research Institute of the McGill University Health Centre (The Institute) RARE.Qc is Quebec’s first province-wide network dedicated to advancing discovery, diagnosis, and treatment for rare conditions.

Just in time for Rare Disease Day, RARE.Qc has received a major boost from Génome Québec, in the form of an investment of over $750,000 to set up world-class data infrastructure that will accelerate research efforts.

“This investment will help us improve our data-sharing platform, which will enhance our research capabilities and foster innovation and collaboration to improve patient care,” says Donald Vinh, MD, Clinician-Scientist in the Infectious Diseases and Immunity in Global Health Program at The Institute, and Director of RARE.Qc.

Génome Québec's investment will enable the adaptation of the Centre québécois de données génomiques (CQDG) platform - a platform that harmonizes and disseminates genomic data from clinical and research studies in Québec - to RARE.Qc's needs. This work will be carried out by Vincent Ferretti, Professor at the Centre de recherche du CHU Sainte-Justine.

Strength in Collaboration

Since its launch in early 2024, RARE.Qc has grown to include almost 150 researchers, clinicians, patient advocates, and students, with 25 scientists from The Institute actively contributing to groundbreaking studies. At the heart of this initiative, along with Dr. Vinh, are three co-directors: Geneviève Bernard, MD, Scientist in the Child Health and Human Development (CHHD) Program at The Institute, Dr. Philippe Campeau, from the Centre Hospitalier Universitaire Sainte-Justine, and Nicolas Pilon from the Université du Québec à Montréal.

“Too often, people living with rare diseases are overlooked, their conditions are not well recognized or studied, and consequently, there is little-to-no therapies for them,” adds Dr. Vinh. “By bringing together leading researchers and clinicians, RARE.Qc is creating a framework to improve patient outcomes through science, collaboration, and advocacy.”

Research with the potential to transform lives

Over the past year, researchers at The Institute have made significant strides in understanding and treating rare diseases:

• Wei-Hsiang Huang, PhD (Brain Repair and Integrative Neuroscience Program) is pioneering gene therapies for Smith-Magenis syndrome, using CRISPR-based approaches to regulate gene dosage.
• Adam Shapiro, MD (CHHD Program) has published key studies on primary ciliary dyskinesia (PCD), improving diagnostics and care through research collaborations across North America.
• Arnold Kristof, MDCM (Translational Research in Respiratory Diseases Program) is developing new therapeutic strategies for rare respiratory conditions, securing grants and sharing findings at international conferences.
• Kenneth Myers, MD (CHHD Program) is leading a groundbreaking trial for mitochondrial DNA depletion diseases, with promising results now paving the way for new treatments.

Advancing precision health in rare disease

“In my clinic, I see firsthand how rare diseases impact families,” says Dr. Bernard. “For many conditions, there is still no cure—or even a clear diagnostic pathway. Research is the key to changing that, and RARE.Qc is giving us the structure to do so more effectively.”

Rare disease research aligns with The Institute’s 2030 Vision: Precision Health Across the Life Course, which prioritizes genomic medicine, personalized therapies, and patient-centered research.

RARE.Qc is funded by the Fonds de recherche du Québec (FRQ) in partnership with the ministère de la Santé et des Services sociaux (MSSS).

More information about RARE.Qc