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Development of Orphanet - The Rare Diseases Portal [RDPortal2] [20091215] - Project
General objectives

RDPortal2 aims to provide the community at large, via a user-friendly portal in 5 languages, with comprehensive information in order to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases (RD), and to map healthcare services in the EU and build indicators An inventory of RD and an encyclopedia of RD aims to help involve the international community in producing knowledge on RD. RDPortal2 aims to improve knowledge of the characteristics and epidemiology of RD by collecting and disseminating this information. A tool to retrieve possible diagnoses through a search by clinical signs and symptoms will assist diagnosis. A directory of professional services throughout Europe is provided with the aim of contributing to the appropriate use of expert clinical services and promote quality assurance in laboratories offering medical genetic testing. A directory of patient organisations will help fight isolation and empower patients. Comprehensible information on the stage of development of orphan drugs and their availability in MS will be provided.

Strategic relevance and contribution to the public health programme

RD are 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, followed by Recommendations from the Council on 9 June 2009. In these
documents, the importance of providing accurate information on RD to all European
citizens and on expert services, 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. Orphanet is also cited as a strategic element of any
national strategy in the field of RD.

Methods and means

The general objectives of the project will be reached through a number of methods. For
the inventory of rare diseases this is a systematic search of relevant literature; for
the production of textual information articles will be solicited from experts and are
peer-reviewed; for collection of data for the directory of services this will be carried
out at country level using an established methodology and will be expert-validated.
Data is annually updated and expert validated by speciality. Information on availability of orphan drugs is collected through systematic contact with companies and centres of reference. Coordination between partners is supported by an intranet site, newsletter, conference calls and direct contact. Methods are in place to monitor data collection in the MS and to control the quality of the database. In order to allow for the publication of data in new formats (OWL and RTF) the architecture of the servers will be modified.

Expected outcomes period

The overall outcome is to serve as the reference source of information on RD for European citizens. A comprehensive inventory of RD will be published as PDF documents for use by policy makers and health care managers. The RD encyclopedia will be expanded, updated and translated into French, German, Italian, Spanish. Visibility will increase thanks to collaboration with Wikipedia.The online diagnosis tool will cover more RD. 70 additional review articles will be published in the OJRD. The directory of expert clinics, medical laboratories, networks, registries and patient organisations will be fully comprehensive:expert resources will be published as reports.Information provided on Orphan Drugs will be comprehensive, from pre-clinical research to availability at country level, including publication as PDF documents. All data will be directly accessible in Rich Data Format and Ontology Web Language to ensure dissemination of the Orphanet nomenclature and maximise the use of information on expert services. The database structure will be simplified to optimise the data management process.

Start date: 01/04/2010
End date: 01/04/2011
Duration: 12 month(s)
Current status: Finalised
Programme title: Second Programme of Community action in the Field of Health 2008-2013
EC Contribution: € 749 404,98