Orphanet Data for Rare Disease (OD4RD) Final Meeting

Orphanet Data for Rare Disease (OD4RD) Final Meeting

The final meeting of the Orphanet Data for Rare Disease (OD4RD) project led by Orphanet took place in Paris (FR) on 6 October 2022 and was attended by Darren Shilhan, ERN eUROGEN Lead IT & Data Performance Analyst.

The OD4RD project started in January 2022 as a one-year project building on Orphanet’s specific expertise as a well-established network. The aim was to contribute to the generation of standardised, interoperable data on RD diagnosis for primary and secondary use through maintenance of the Orphanet nomenclature of RD in collaboration with ERNs, and active support for its implementation in ERN-hosting hospitals.

The project also aimed to contribute to the harmonisation of data collection in various settings and countries through the dissemination of coding good practices at the source (health records, registries, etc.) and supporting evidence-based decision-making in the framework of the European strategy around ERNs, by providing an exploitable reference corpus of data and information on rare diseases. The project benefited from a direct grant from the European Commission.

The final meeting gathered all the project’s partners and representatives from the ERNs. It was an opportunity to present the achievements of this project, including the maintenance and update of the Orphanet nomenclature and classification of RD, the development of the Orphanet knowledge and information base around rare diseases in collaboration with ERNs, the development of national Orphanet nomenclature hubs to ensure optimal implementation at the national level, and support to the European Commission in its ERN strategy through dedicated IT systems.

As mentioned above, ERN eUROGEN attended this meeting and remains engaged in the future development of Orphanet codes for our Expertise Areas (EAs). We have already revised the Orphacodes for EA 1.7 Urorectal/Anorectal Malformations and are working jointly with ERN ITHACA to do the same for spina bifida in EA 1.4 Non-syndromic Urogenital Tract Malformation. As we refresh the Network-Specific Criteria (thresholds) for each EA, we shall also check that the current Orphacodes, where used, are fit for purpose. Otherwise, we can apply for support to update them via the OD4RD project.