Over 7,000 rare diseases exist. While the diseases may be rare, the patients are not, as a total of 2.5 million Canadians are affected, including more than 500,000 people in Quebec.
Rare diseases represent a significant public health concern, as many of them have no effective treatment options. Moreover, a growing number of patients are now reaching adulthood, but a substantial void exists in the healthcare system in regards to the management, monitoring and care of these patients who must leave the pediatric environment.
To address this alarming situation, the IRCM is proposing to establish on its premises a Research centre on rare and genetic diseases in adults. Drawing on its exceptional strengths in clinical and basic research, this new centre will be the only one of its kind in Canada and will allow the institute to position itself as a national leader.
In addition to providing access to specialized care, the initiative will lead to the development of a model for clinical follow-up to ensure the transition from pediatric to adult care. Furthermore, this initiative will not only allow the institute to conduct research on rare diseases, but will become a central component of the translational research program required to better understand these diseases and, as a result, develop new treatments. To support this initiative, the IRCM is establishing three important partnerships with the CHU Sainte-Justine university health centre, the Centre hospitalier de l'Université de Montréal (CHUM), and the Quebec Coalition for Orphan Diseases (Regroupement québécois des maladies orphelines, RQMO).
With its recognized expertise in immunology, neurobiology, developmental biology, and cardiovascular and metabolic diseases, the IRCM is the best positioned institute to create a centre of excellence in clinical research on rare and genetic diseases associated with these fields. In fact, the IRCM also houses an outpatient clinic that is conducting several research projects on certain rare diseases. In addition, nearly half of its basic researchers are already researching these diseases.
The first clinics put in place are those dealing with primary immunology, hereditary dyslipidemia and polykystosis and rare kidney diseases.
This initiative is under the leadership of Yves Berthiaume.