Orphanet: About Orphanet

OrphaNetWork Direct Grant

INSERM, US14 - Orphanet now coordinates the OrphaNetWork Direct Grant, co-funded by the 3rd EU Health Programme. This grant will cover Orphanetwork activities from 1st June 2018 to 30 June 2021.

Project Overview:

Rare diseases (RD) have been considered a challenge for Europe, for they have been identified as one of the paradigmatic fields in which actions conducted at the European level constitute the adequate response to their specific problems: poor recognition leading to diagnostic delay and inappropriate management including adapted social services, poor health outcomes, social burden, limited knowledge on natural history and pathophysiology leading to an insufficient development of new therapies. Amongst the key actions the European Commission (EC) has contributed to develop so far in order to address key priorities in the field of RD there is Orphanet, a European Knowledge base dedicated to RD and orphan drugs, accessible from the portal www.orpha.net, and providing re-usable data through the platform www.orphadata.com. Orphanet has also be recognised, by the EC, as having a de facto monopoly in its field.

The objectives of the project are:

  • To provide the RD community with interoperability tools, in particular around an inventory of RD, to allow for semantic interoperability between countries and between domains (health, research)
  • To provide high-quality information on RD, in particular through an encyclopedia in several languages,
  • To provide a directory of expert services in order to help patients, physicians and stakeholders finding the expertise on a particular disease in Europe and beyond, and to produce data needed to support policy actions.
  • To further develop and sustain Orphanet as the reference knowledge base on RD, by establishing and consolidating collaboration within the Orphanet pan-European network and with European Reference Networks (ERNs) for the production, improvement and dissemination of knowledge on rare diseases. It will allow for the creation of a consistent expertise ecosystem for rare diseases in Europe.

The main expected outcome of this project is to consolidate Orphanet as the European database for rare diseases, achieving a position of the international reference for information and data on rare diseases.

Other expected outcomes are: to provide the rare diseases community with a standard nomenclature enabling rare diseases patients to be detected and brought to the best expertise and to clinical research; to provide the rare disease community with a tool for semantic interoperability between health information systems, registries, biobanks and other data repositories; to build a European rare diseases consistent, steady ecosystem as the result of the close cooperation of Orphanet and European Reference Networks.

For more information such as partners and activities description please consult our promotional leaflet, our final leaflet and our Final report for the General Public Thank you!