Bringing rare and undiagnosed diseases out of the shadows

A new network will advance research and care for thousands of people suffering from a rare or undiagnosed disease

In Quebec, it is estimated that more than 500,000 people suffer from a rare disease, which is defined as a disease that affects less than one in every 2,000 citizens. Too often, affected patients and their families are left in the dark when it comes to finding an expert who knows about their disease. Many struggle to obtain a diagnosis, and keep living with an undiagnosed condition, which places an enormous burden on them, their families and the healthcare system.

The Réseau pour Avancer la REcherche sur les maladies rares au Québec (Network to advance research on rare diseases in Quebec or RARE.Qc) - one of 15 thematic networks recently funded by the Fonds de recherche du Québec - Santé (FRQS) in partnership with the ministère de la Santé et des Services sociaux (MSSS)- aims to change that. Led by Dr. Don Vinh and Dr. Geneviève Bernard, both at the Research Institute of the McGill University Health Centre (RI-MUHC), Nicolas Pilon, of the Université du Québec à Montréal, and Philippe Campeau, of the CHU Sainte-Justine/Université de Montréal, RARE.Qc will make Quebec a beacon of innovation in the field of rare and undiagnosed diseases, while connecting patients from across the province to specialists working on their specific disease.

“Rare diseases are frequently misinterpreted as "unimportant". Because these diseases are not well known to the medical community, affected patients and families are lost in a slow, expensive and emotionally draining "diagnostic odyssey". They often go from healthcare professional to healthcare professional trying to find the expert who knows their disease. This diagnostic odyssey can result in inaccurate diagnosis and sub-optimal treatments,” explains Dr. Vinh, Principal Investigator of RARE.Qc, Infectious Disease Physician and Medical Microbiologist at the MUHC, and Scientist in the Infectious Diseases and Immunity in Global Health Program at the RI-MUHC focused on genetic diseases of the immune system.

A false perception of rarity

Rare diseases and undiagnosed diseases may seem to affect few people, but in reality, there are more than 7000 distinct rare diseases, and at least half of them affect children. To give an order of magnitude, the number of people affected by a rare disease in Canada is estimated to be as many as the number of people with diabetes.

“We are very pleased that the network has been funded. People living with undiagnosed diseases not only have difficulty accessing care from experts, but they also suffer from conditions in which there is little to no funding into research of their rare disease. Lack of coordination and small patient populations distributed over a wide geographic area exacerbate the problem of scarce resources. However, nobody chooses to have a rare disease, and people who have one deserve optimal care. Ultimately, the RARE.Qc network will bridge these gaps to help affected patients and families,” further explains Dr. Vinh.

Close links between care and research

RARE.Qc will develop a provincial network to bring together experts in all aspects of rare and undiagnosed diseases’ research. It will answer clinical questions such as understanding which rare diseases are present in Quebec, their incidence and location, as well as their associated use of healthcare resources and their impact on patients and families, to name a few.

The network will use a translational and reverse translational research approach, also known as bedside to bench to bedside, which means that researchers will study clinical observations in the laboratory and bring research results back to the clinic.

Furthermore, by facilitating multidisciplinary clinical evaluations and fostering collaborations between healthcare workers, clinical researchers and basic science researchers, the network will aim at identifying novel diseases, understanding disease mechanisms and developing novel therapeutic approaches. It will ensure that promising clinical trials and treatments are made available to those who need them. All of this, to benefit patients in real time, by improving diagnostic tests and standards of care.

“Rare disease research is dependent on collaborations to move the field forward. These collaborations must start in Quebec and eventually extend to the rest of the country and internationally. The creation of the network is the first step toward achieving this goal,” says Dr. Geneviève Bernard, Co-Investigator of RARE.Qc, Scientist in the Child Health and Human Development Program at the RI-MUHC and a pediatric neurologist at the Montreal Children’s Hospital of the MUHC.

“As a clinician who sees patients with rare diseases, as a researcher working on rare diseases (leukodystrophies and other pediatric neurodegenerative diseases), and as the mother of a child with a rare disease, I am truly touched by the creation of this network. It gives me hope for all patients living with rare diseases in Quebec and abroad,” adds Dr. Bernard.