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Development of the European portal of rare diseases and orphan drugs [JA-Orphanet Europe] [20102206] - Joint Actions
General objectives

The objective is to provide the community at large with an inventory of RD, an encyclopaedia in as many languages as possible, and a directory of expert services in the participating countries. The project aims to improve the update of the encyclopaedia and the update of the directory of services, to put in place a process to ensure swift management of translations, swift collection of data and validation by national health authorities before publication. The project will also improve the governance of Orphanet to ensure its mission at international level. The website will be adapted to offer national front pages in national language(s), and the possibility to disseminate information on national policy documents and national events. Each Member State will benefit from the core infrastructure already developed and will have the opportunity to offer its citizens a national portal at a marginal cost. All the collected information will serve as a source to map health care services in Europe and to build indicators.

Strategic relevance and contribution to the public health programme

RD is a priority for action in the Public Health Programme (2008-2013). A Communication of the European Commission, entitled “Rare Diseases: Europe’s challenge" was adopted on 11 November 2008 and followed by Recommendations from the Council on 9 June 2009. In these documents, the importance of providing accurate information on expert services on RD to all European citizens, is clearly stated. The Orphanet database is mentioned as the source of information on which is based what is currently known about the situation of RD in the European Union in the field of RD. Orphanet is currently the number one international website dedicated to RD in general, the only one providing an inventory of RD and giving access to classifications. Orphanet is the only project which establishes a link between the diseases, the textual information about them and the appropriate services for the patients, for health professionals and for policy makers. Orphanet is a key element of any nnational plan or strategy in the field and mentioned as such in the Council Recommendation

Methods and means

The search for information on each RD will be conducted by a systematic search of medical and scientific literature. The production of textual information is all expert authored and peer reviewed. The collection of data for the directory of expert services will be carried out at the country level, using a methodology which is already in place. The data is formated to meet the requirements of the database, validated in terms of relevance for the project, and injected in the database. Once a year every cited professional receives all the information related to his/her speciality for re-validation or modification. Each national team will have access to a user-friedly tool to edit its national Orphanet website and another one to extract its national data for presentation in reports or books for dissemination at coutry level. The data will be available in RDF and OWL format and posted on a new section of the website for other external users.New tools necessary to ease the management of the project will be developed and two new committees will be implemented to improve the governance.

Expected outcomes period

The overall outcome is to serve as the reference source of information on RD for European citizens. The inventory of RD will be completed to be as comprehensive as possible and this inventory will be made available as PDF documents for easy use by policy makers and health care managers. The inventory will be published under several formats. The encyclopaedia of RD will be expanded and updated, translated into French, German, Italian, Spanish, and into more languages if a MS decides to support the translation. The directory of expert services will be truly comprehensive. The expert resources will be published as Orphanet Report Series for more effective communication. The whole dataset will be directly accessible for re-use in Rich Data Format (RDF) and Ontology Web Language (OWL), to ensure dissemination of the Orphanet nomenclature of RD and to maximise the use of collected information on expert services. The visibility and friendliness of the website will be improved as well as the governance of the project as a whole to reflect the new involvement of health authorities of MS.

Start date: 01/04/2011
End date: 01/01/2015
Duration: 45 month(s)
Current status: Finalised
Programme title: Second Programme of Community action in the Field of Health 2008-2013
EC Contribution: € 3 295 857,00
Portfolio: Rare diseases