Orphanet is the world-reference portal dedicated to information on rare diseases (RD) and orphan drugs (OD) It was created in 1997 at the French National Institute of Health and Medical Research in Pa...
Orphanet is the world-reference portal dedicated to information on rare diseases (RD) and orphan drugs (OD) It was created in 1997 at the French National Institute of Health and Medical Research in Paris. It is coordinated by INSERM US 14 and the network involves now 38 countries.
The overriding aim of ORPHANET is to provide the community at large with a comprehensive set of information on RD and OD and attached services in Member States, to contribute to the improvement of the diagnosis, care and treatment of patients with RD.
Orphanet includes an inventory of 6000 RD, an encyclopaedia in 6 languages, a directory of health professionals (17000), expert clinics (5600), medical laboratories (1600), clinical trials (1700), research projects (4500), networks, registries (1300), patient organisations (2400), and information on OD and on drugs intended for rare diseases. All the MS have now an Orphanet national website published in their national language(s). The encyclopaedia of RD is available in English, French, German, Italian, Spanish, and Portuguese,Dutch, and for some diseases in Finnish, Greek and Polish. The portal is accessed daily by over 20,000 users from over 200 countries. Half of them are regular users. More than 10,500,000 documents are downloaded every year.
Orphanet has been developed through several rounds of funding, to include EU co-funding alongside other resources. In its current development phase, the network aims to develop tools for the partners as to empower them to collect data at national level and publish them, and in general tools to upgrade the quality of the database and ease its update and validation. In addition, the current 2014 work plan requires further work on the inventory and classification of RD, which has proven difficult due to delays in the overall review of the International Classification of Diseases.
Currently, Orphanet is co-funded through the ORPHANET Europe JA (alongside other funding sources –see section 1.5.5.). The activities which are included in the ORPHANET 2014 Operating Grant do not in any way overlap with those that are implemented through the Joint Action, which ends on 30/03/2014.