Sources of information on rare diseases
We direct you to the most important official sites to find reliable information and resources for rare diseases. If you cannot find the information you are looking for or if you would like to be directed to resources in Quebec or elsewhere in Canada, contact our iRARE Centre.
Orphanet
The portal for rare diseases and orphan drugs. For the general public and professionals. More than 6,000 rare diseases listed. Information in 9 languages, including French. Resources in over 40 countries (Canada has participated in the past; there is some information in the portal).
For each disease, you will be able to find these resources : (notez que les ressources des États-Unis ne sont pas incluses; voir ci-dessous ressources américaines)
- Expert centres
- Associations
- Orphan drugs
- Research projects
- Clinical tests
- Registries/databases/research networks
- Diagnostic tests
And the following documents:
- Signs and symptoms
- Articles for general public (in French)
- Recommendations for clinical practice
- Emergency procedures
- Disability: information on activity limitations/participation restriction
- Recommendations for anesthesia
- Information about a drug
Commencez ici www.orpha.net ou consultez la Liste de maladies rares d’Orphanet
You can also download the Orphanet appin six languages (iPhone or iPad) and Orphanet Guides.
Other sources of information
- Genetic and Rare Diseases Information Center (GARD)
- Disease Infosearch
- Rare Disease Database (National Organization for Rare Disorders)
- Merck Consumer Manuals
- Rare Disease Health Networks (France) (filieresentreprisesrares.fr)
- StatPearls – NCBI Bookshelf (nih.gov)
Genetic Disease, Gene, and Genetic Testing Databases
- Medline Plus – Genetic conditions
- GeneReviews
- Genes and Disease (National Center for Biotechnology Information)
- OMIM
- Genetic Testing Registry
- Gene database
Experts and expert centres
Clinical tests
- Public clinical trials registry – Clinical Research Quebec (recherchecliniquequebec.com)
- Search for a clinical trial in Canada
- Clinical trials worldwide (including Canada): ClinicalTrials.gov
- Clinical Trials in the European Union – EMA (euclinicaltrials.eu)
- Orphanet: search for a clinical trial
- International Clinical Trials Registry Platform
Patient registries
- Orphanet registries/biobanks
- ClinicalTrials.gov (research registries are listed on this site)
- Registries in which patients can register themselves: see ourDirectory of Rare Disease Registries
Databases of books and scientific articles
- Pubmed Central (open access scientific articles)
- PubMed (more complete, but the articles are not all open access)
- Bookshelf
- Orphanet Journal of Rare Diseases
- Journal of Rare Diseases
- Journal Rare Disorders: Diagnosis & Therapy
- Rare
- International Journal of Rare Diseases and Disorders
Information on drugs for rare diseases
See our web page: « Drugs – Resources »
Pharmaceutical industry
Organizations in the field of rare and orphan diseases
- Canadian Organization for Rare Disorders (CORD)
- B.C. Rare Disease Foundation
- Orphanet (Europe)
- EURORDIS (Europe)
- Alliance Maladies Rares (France)
- Rare diseases info services
- National Organization for Rare Disorders (NORD) (United States)
- Genetic Alliance (United States)
- Global Genes (United States)
- Genetic Alliance (United Kingdom)
- Rare Diseases International
You did not find what you were looking for....
If you haven't found the information you're looking for, we can help you. Our professionals are trained to find all the information on a rare disease and have access to specialized sites.
Contact our iRARE Centre. We are here to serve you!
