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 Canada, contact our iRARE Centre.
Orphanet
www.orpha.net
The portal for rare diseases and orphan drugs. For the general public and professionals. More than 6,000 rare diseases listed. Information in nine (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 :
- Expert centres
- Patient organizations
- Orphan drugs
- Research projects
- Clinical trials
- Registries/biobanks/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
- Recommendations for anesthesia
- Information about a drug
You can also download the Orphanet app in six languages (iPhone or iPad) and the Orphanet Report Series.
Other sources of information
- Genetic and Rare Diseases Information Center (GARD)
- Disease Infosearch
- Rare Disease Database (National Organization for Rare Disorders)
- Merck Consumer Manuals
- Filière Santé Maladies Rares (France)
- StatPearls – NCBI Bookshelf (nih.gov)
Genetics
Information
- Genetics Education Canada: Knowledge Organization (GECKO)
- Help me understand genetics
- Beginner’s Guide to Genetics
- Genetics 101
Databases of genetic diseases, genes, and genetic Tests
- Medline Plus – Genetic conditions
- GeneReviews
- Genes and Disease (National Center for Biotechnology Information)
- OMIM
- Genetic Testing Registry
- Gene database
Experts and expert centres
- FindExpertMD
- Orphanet’s Directory of Expert Centres
- The 23 “Filières Santé Maladies rares” (France): a network of thousands of Centres of Reference in France
Research projects and clinical trials
- Clinical trials worldwide (including Canada): ClinicalTrials.gov
- Register for a clinical trial in Canada: VIPeR
- Orphanet: research projects and clinical trials
- Search for clinical trials in Canada
- Public clinical trials registry – Clinical Research Quebec
- Clinical Trials in the European Union – EMA (euclinicaltrials.eu)
- International Clinical Trials Registry Platform
Patient registries
- Inventory of Canadian Registries (CDA)
- Orphanet registries
- ClinicalTrials.gov (research registries are listed on this site)
- Registries in which patients can register themselves: see the RQMO’s Directory of Rare Disease Registries
Scientific articles and books
- 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
- Drugs and health products (Health Canada)
- Health Canada’s Drug Product Database (DPDB).
- United States (Food and Drug Administration): Orphan Drug Designations and Approvals
- Europe (European Medicines Agency): Community Register of Orphan Medicinal Products.
- Orphanet: By name of disease By name of drug
See our web page: «Treatments»
Pharmaceutical industry
Organizations in the field of rare and orphan diseases
Canada
- Canadian Organization for Rare Disorders (CORD)
- Regroupement québécois des maladies orphelines/Quebec Coalition of Orphan Diseases
- B.C. Rare Disease Foundation
- Rare Disease Network of Alberta
- Canadian Rare Disease Network
Other countries
- EURORDIS (Europe)
- Alliance Maladies Rares (France)
- Rare diseases info services (France)
- National Organization for Rare Disorders (NORD) (United States)
- Genetic Alliance (United States)
- Global Genes (United States)
- Genetic Alliance (United Kingdom)
- Rare Diseases International
For health professionals
- Rare Disease Interest Group (McGill University; for medical students)
- Medics 4 Rare Diseases
- Global Genes’ Rare Compassion Program (for medical students)
- Continuing Medical Education Program of the National Organization for Rare Disorders (NORD)