Workshops on Rare Disease Registry Infrastructure dedicated to Rare Disease Day

The JRC makes a significant contribution to the rare diseases (RD) community with workshops on tools for the RD registries interoperability.

This year's Rare Disease Day observed today is particularly important for the JRC as it launched during this month a series of training workshops on the European Rare Disease Registry Infrastructure (ERDRI) components, to all interested stakeholders.

ERDRI is part of the European Platform on Rare Diseases Registration (EU RD Platform) currenlty being developed by the JRC in collaboration with the European Commission Departement for Health & Food Safety.

The major objective is to tackle the enormous fragmentation of RD patient data contained in hundreds of patient registries across Europe established at national, regional and local level, including the ones within the European Reference Networks (ERNs).

By promoting interoperability between data sources, the EU RD Platform supports knowledge generation on rare diseases and helps reaching the necessary critical numbers to conduct epidemiological, clinical, translational, pharmacological and other studies and research for advancing diagnosis and treatment for RD patients.

Two sessions of the training workshops already took place during February 2018, with a total of 79 participants from 23 out of 24 ERNs, from national and patients' association's registries.

The training focused on the structure, functioning, access by registries and implementation of the Central Metadata Repository and the European Directory of Registries.

Feedback from the participants on how their registries are planning to use the ERDRI components has been valuable in order to fine tune the tools even further to perfectly fit all stakeholder's needs.

A follow up training will take place on the 8-9 March 2018 to complete the presentation of the ERDRI tools.

The European Platform on Rare Diseases Registration will be launched later this year.