As a result of cooperation between Québec and France, Québec’s existing rare disease resources are now accessible on the Orphanet international portal for patients and health care professionals in Québec as well as in France and elsewhere.
A rare disease is defined as a disease affecting fewer than one in 2,000 people. Over 7,000 rare diseases have been identified around the world so far. It is estimated that about 5% of the population in Québec and France suffers from one or another of these diseases.
Through the Orphanet-Québec project, Québec’s rare disease resources, including specialized clinics, diagnostic laboratories, patient organizations and research projects, will be now listed on the Orphanet international portal. Québec also has a website, the Orphanet-Québec Portal, which serves as a gateway to the international database.
The Orphanet international portal was created in 1997 at INSERM (National Institute of Health and Medical Research) with the support of the French Ministry of Health. The purpose of this unique portal, which pools the resources of 40 countries in six languages (the first of which is French), is to help improve the diagnosis, management and treatment of rare diseases. It is a tool that meets the need of sharing expertise in the field of rare diseases.
The Orphanet-Québec project is an initiative of the Québec Coalition of Orphan Diseases backed by the Department of Medical Genetics at the McGill University Health Centre in close collaboration with Orphanet’s French team in Paris. The portal was launched last October during an international symposium held in Québec on rare diseases.
Orphanet-Québec is a cooperation project between Québec and France sponsored by the Permanent Commission for Cooperation between France and Québec which is administered by Québec’s Ministère des Relations internationales, de la Francophonie et du Commerce extérieur and the Consulate General of France in Québec City. The project was also made possible thanks to the participation of Québec’s Ministère de la Santé et des Services sociaux.