Pediatria pre prax 1/2016

Orphanet – in the service of patients with rare diseases

Almost 6000 different rare diseases are known today and although the single disorders occur only in a small number of patients, together they affect more than 5% of the European population. Hence it is important to keep the specialists and the general public up to date. The education about rare diseases is insufficient. Reviews and research articles in a highly professional journals are often dedicated to serve only for profiled medical experts. Web sites and other information sources managed by non-profit associations, patient organizations or their umbrella alliances can not cover the needs of all patients with the most diverse rare diseases. Orphanet (www.orpha.net) is a complex and comprehensive internet portal, which serves as a source of information not only about rare diseases and their (mostly) genetic background, but also about commercial or research laboratories, medical expert centers, clinical-genetic reasearch projects, patient organizations, registries and orphan drugs.

Keywords: Orphanet, rare diseases, database, information