This section is dedicate to all types of European Initiatives that are related to the research on rare diseases.

ORPHANET

ORPHANET

The Portal for Rare Diseases and Orphan Drugs

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 services

 

Orphanet offers a range of freely accessible services:

  • An inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications.
  • An encyclopedia 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 authorization.
  • A directory of specialized services, providing information on specialized clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organizations, 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 encyclopedia 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 specialized clinics, medical laboratories, ongoing research and patient organizations 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 encyclopedia.

E-Rare 2012 - Created by Toussaint Biger