ORPHANET

Since April 2010 CIBERER has been the Spanish partner of Orphanet, the European reference portal for rare diseases and orphan drugs. Established in 1997 in France, it soon spread to other European countries and is now present in over 36 countries in Europe and surrounding area.

Orphanet is meant for all those working in the field of rare diseases, with the aim of helping to improve the diagnosis, care and treatment of those affected by these pathologies. At the present time this portal has information on roughly 9,000 rare diseases, 1,200 orphan drugs, 2,400 patients’ associations, 19,500 health professionals and 5,700 clinics specialised in low prevalence pathologies.

The information is available in 7 languages, including Spanish, and includes:

  • An inventory of rare diseases: a collection of abstracts and review articles on low prevalence pathologies, written by experts from the international medical community, and regularly updated.
  • A directory of health resources of Orphanet: information on expert clinics, clinical laboratories, diagnostic tests, research projects, clinical trials, patients’ registries and biobanks.
  • A directory of patients’ associations in cooperation with EURORDIS and FEDER, the European and Spanish federations, respectively, of support groups of those affected by rare diseases and their families.
  • The search for rare diseases by clinical signs and classifications to contribute to the differential diagnosis of these pathologies.
  • A public database of orphan drugs: provides information on the drugs that have been designated as orphan drugs and/or have obtained a marketing authorisation for treatment of rare diseases. 
  • OrphaNewsEurope: free electronic newsletter which informs every 15 days of the scientific (new scientific publications, congresses etc.), social and political scenario, in the field of low prevalence pathologies in Europe (in English).

Orphanet-Spain team:

  • Coordinator: Dr Francesc Palau
  • Scientific Committee: Made up of Spanish experts in different areas of knowledge.
  • Project manager: Dr Virginia Corrochano
  • Scientific documentalists: María Elena Mateo and Estrella Rubio
  • Contact mail address:  orphanet@ciberer.es

Some links of interest: