Research Centre
on Rare and Genetic
Diseases in Adults

Exploring the paths
less travelled to
support life

There are more than 7,000 rare diseases, and still more patients. In Canada alone, there are more than 2.5 million people that suffer from rare diseases and over 500,000 in Quebec. To meet the needs of these patients, the IRCM established the Research Centre on Rare and Genetic Diseases in Adults.

The Centre is the only place in Canada where the focus is on transitioning patients with rare diseases from pediatric to adult care. With different research divisions housed under the same roof, we conduct biomedical research to help better understand a variety of rare diseases and develop new treatments. Through an approach that combines medical care and research, our team pushes the limits of knowledge of numerous types of rare diseases.

« The IRCM is the only place in Canada where the focus is on transitioning patients with rare diseases from pediatric to adult care. »

Our specializations

Sophie Bernard
Sophie Bernard

Director of the Genetic
Dyslipidemias Clinic

Genetic dyslipidemias

The Genetic Dyslipidemias Clinic assesses and treats patients with rare and severe disorders that result in elevated blood cholesterol and/or triglyceride levels that can cause cardiovascular or pancreatic complications.

The clinic’s staff also collaborates on research studies to improve the screening, diagnosis, and treatment of genetic dyslipidemias in order to provide personalized care and reduce cardiovascular and pancreatic complications.

Hugo Chapdelaine
Hugo Chapdelaine

Director of the Primary
Immunodeficiency Clinic

Primary immunodeficiency

The Primary Immunodeficiency Clinic assesses and treats patients with compromised immune systems, resulting in frequent, severe, long-term, or atypical infections, as well as autoimmune manifestations.

Symptoms may appear at any age. In Canada, it is estimated that 13,000 people suffer from this type of disease. The clinic’s staff also collaborates with researchers in the IRCM’s Immunity and Viral Infections research division to better identify patients with immunodeficiencies, understand disease progression, and devise treatments that are appropriate to their condition.

Guillaume Bollée
Guillaume Bollée

Director of the Rare
Kidney Diseases Clinic

Rare kidney diseases

The Rare Kidney Diseases Clinic assesses and treats patients with different kidney diseases, including polycystic kidney disease, cystinosis, thrombotic microangiopathies, tubulopathies, tubulointerstitial kidney diseases, and hereditary glomerulopathies.

The research protocols that are carried out mainly focus on new methods of diagnosing, monitoring, and treating kidney diseases, and aim to find better ways to approach disease management.

Témoignage patient

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A multidisciplinary and highly
specialized team awaits you

Nursing care

Nutrition team

Genetic counsellor

Contribute to
research and participate
in a clinical study

When you participate in one of our clinical studies, you contribute to biomedical research while helping your community. See the studies underway to participate.

See the current studies

Contribuez à la recherche en participant à une étude clinique

Patient Rights

The IRCM clinic is associated with the Centre hospitalier de l’Université de Montréal (CHUM). The IRCM clinic is committed to providing quality service to all users. Nevertheless, you or your relatives may be dissatisfied with the services you have received and may wish to inform us of this situation. To file a formal complaint regarding the medical services provided at the clinic, share your comments with us, or for any question concerning your rights, the primary contact people are the directors of the specialized clinics and the Operations Manager of the clinic. A complaint can be filed in writing or verbally and will be treated confidentially without any prejudice to you. To contact us directly, please send an email to or call 514-987-5552.

If the follow-up provided by the clinic’s managers does not meet your expectations, you can contact the Service Quality and Complaints Commissioner’s office at CHUM for assistance, to file a complaint, to request an intervention, or for any other question. You can submit your request by email at or by calling 514-890-8484.



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