Oh Happy Day - Today marks the very First European Rare Disease Day!
29 February - Paris, France - If you are reading these words today, be aware that celebrations are unfolding all around you as the very first European Rare Disease Day becomes a reality. Across Europe and beyond, a bevy of conferences, media events, marches, and workshops are drawing awareness to the theme of today’s historical event: A Rare Day for Very Special People. Visit the European Rare Disease Day website to find out what’s going on near you.
Orphanet, the European portal for rare disease and orphan drug information, has had its sleeves rolled up for the last two years, working hard to contribute to the effort being made for rare disease patients across Europe. The revamped site, undergoing a rigorous final testing process, is scheduled to be officially unveiled in mid-March. The new website is a work of art – a customised portal providing a multitude of information and services all available from the site’s homepage. The database of rare diseases and orphan drugs has been enhanced with new information, including prevalence, onset, mode of inheritance and genetics. Links to related information sources, such as Swiss-Prot, Hugo or EuroGentest are just a click away. A major feature of the updated website is the addition of a classification scheme that categorises and cross-references any given disease by scientific, medical and genetic criteria. This new capability will help professionals and other users to access information from a generic category and has the added-value of improving data capture that can be instrumental in future policy making and fund distribution decisions as well as vital to treatment development in both the public and private sectors. The new site also improves searching for a rare disease by clinical sign or symptom. The orphan drug section has been enriched to provide information on the stage of development for any particular molecule from the moment it receives EMEA orphan designation until its market authorisation in Europe. The website also now provides access to the list of on-going clinical trials by molecule and to all orphan indications of a designated molecule - a service strongly requested by patients. Finally, navigation of the new site has been simplified to adequately guide first-time users – a growing part of the website’s visitors as the word of Orphanet spreads. The portal is fully accessible to visually and physically impaired users.
Orphanet is one of many organisations throughout Europe dedicated to improving conditions for rare disease patients and their families. OrphaNews Europe takes the occasion on this special day to acknowledge the efforts of all the various information services, research projects, patient associations, networks of excellence, industry initiatives and government actions - each working hard in its own way to ultimately make life better for rare disease patients and their families. Together we can.