Orphanet

Introduction

Orphanet (www.orpha.net) is the reference portal for information on rare diseases and orphan drugs for all audiences. Every month, more than a million pages of the Orphanet website are consulted from over 200 countries.

Founded in 1997 on the initiative of the French Directorate General for Health and the Inserm (French Institute of Health and Medical Research), Orphanet is today an international project in 36 countries, coordinated in Paris by an Inserm unit. This unit is made up of forty health professionals and information scientists.

The infrastructure and coordination activities are jointly funded by Inserm, the French Directorate General for Health, and the European Commission. Certain services are specifically funded by other partners. Orphanet’s activities in each country of the network are also financed by national institutions and/or specific contracts.

Missions

Orphanet aims to help improve the diagnosis, care and treatment of patients with rare diseases, and to provide information on developments in research and new therapies.

Actions and services

Orphanet offers a large range of freely accessible services:

• An inventory of over 6,000 rare diseases and a classification of diseases elaborated using existing published expert classifications.
• An encyclopaedia of rare diseases in English and French, gradually translated into the other languages of the website.
• An inventory of orphan drugs at all stages of development.
• A directory of specialised services, providing information on expert centres, 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
• A newsletter reporting the latest scientific and political developments, OrphaNews
• A collection of thematic reports, the Orphanet Reports Series, focusing on overarching themes, directly downloadable from the website.

The data from the Orphanet database can be downloaded from the site www.orphadata.org