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Rare Diseases Portal [RD Portal] [2006119] - Project
General objectives

The rare diseases portal is designed to improve the services already provided by Orphanet to the public at large. A comprehensive set of information on rare diseases (RDs) will be accessible from a portal in six languages and will be fully accessible to visually and physically impaired users by developing all the Orphanet screens according to international norms in order to be classified AAA for the disabled. It will include a comprehensive encyclopaedia of rare diseases, written by experts and peer-reviewed, a directory of professional services
throughout 35 countries, including a directory of centres of reference in Europe, and a database of orphan drugs providing information on their stage of development and availability in the Member States.

Strategic relevance and contribution to the public health programme

The RD portal is expected to improve the accessibility of information, to contribute to a deeper knowledge of the epidemiology of RDs, to improve the diagnosis of RDs by providing an online system to retrieve possible diagnoses, to contribute to the classification of RDs by coding them with existing coding systems and by
establishing a new classification of RDs, to provide to all citizens of Europe validated information about specialised services for RDs, and to map the centres of reference in Europe.

Methods and means

The collection of data about services will be done at country level following a methodology which is already in place. The number of possibilities to retrieve the information will be increased. This requires the development of a new database structure to include all the new areas of information which will be added to the present database, and the development of new screens.

Expected outcomes period

A portal for rare diseases.
New information services: all the diseases will be linked to the PubMed service and all the significant scientific new facts will be listed in a user-friendly manner; possibility to query by gene or by general terms and also by crossing criteria.
A directory of specialised healthcare services in all European countries.
A directory of centres of reference in Europe for healthcare managers, health professionals and patients.
A directory of designated orphan products from the designation stage up to availability in Europe.
A comprehensive encyclopaedia of rare diseases.
Publication of an online open-access peer-reviewed journal dedicated to the publication of review articles on RDs not covered by other publications.

Start date: 01/04/2007
End date: 01/04/2010
Duration: 36 month(s)
Current status: Finalised
Programme title: First Programme of Community action in the field of public health (2003-2008)
EC Contribution: € 960 000,00