:: Orphanet in brief
Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.
Orphanet offers a range of freely accessible services:
- An inventory of diseases and a classification of diseases elaborated using existing published expert classifications.
- An encyclopaedia of rare diseases in English and French, progressively translated into the other languages of the website.
- An inventory of orphan drugs at all stages of development, from EMA (European Medicines Agency) orphan designation to European market authorisation.
- A directory of specialised services, providing information on specialised clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organisations, in the field of rare diseases, in each of the countries in Orphanet’s network.
- An assistance-to-diagnosis tool allowing users to search by signs and symptoms.
- An encyclopaedia of recommendations and guidelines for emergency medical care and anesthesia.
- A bimonthly newsletter, OrphaNews, which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs, in English and French.
- A collection of thematic reports, the Orphanet Reports Series, focusing on overarching themes, directly downloadable from the website
The organisation and governance of Orphanet
Orphanet is led by a European consortium of around 40 countries, coordinated by the French team.
National teams are responsible for the collection of information on specialised clinics, medical laboratories, ongoing research and patient organisations in their country. All Orphanet teams respect the same quality charter.
The French coordinating team is responsible for the infrastructure of Orphanet, management tools, quality control, rare disease inventory, classifications and production of the encyclopaedia.
Orphanet is governed by various committees, which independently supervise the project in order to ensure its coherence, evolution and viability.
At European level
- The Steering Committee, made up of representatives from the agencies and bodies which finance Orphanet’s infrastructure and European coordination.
- The Management Board, made up of Orphanet country coordinators. This committee is chaired by the director of the Inserm-Orphanet department.
- The Editorial Board, made up of over 100 international experts.
At national level
- The Steering Committee and/or Scientific Advisory Board, according to the country (there is a Scientific Advisory Board in each of the 38 participating countries), made up of national experts from every medical domain. This Committee/Board advises the national Orphanet team and validates the information collected on specialised services prior to publication online.
The infrastructure and coordination activities are funded jointly by Inserm (the French National Institute of Health and Medical Research), the French Directorate General for Health, and the European Commission (20091215). Certain services are specifically funded by other partners.
Orphanet’s national activities are equally financed by national institutions and/or specific contracts.
An activity report is produced annually and is published online on the Orphanet website.
Click here to consult the latest activity report.