News

New tool for Rare Disease Registration

11. Mar 2022

The European Commission's Joint Research Centre (JRC) has released a new, fully revised version of the Central Metadata Repository, a tool that enables the integration of data from rare disease registries across Europe. This version includes a new user-friendly web interface as well as the integration of conversion and upload tools to enable easy integration of metadata and ultimately facilitate the use of data for cross-cutting studies and research purposes.

As the fight against rare diseases is also a major challenge due to the uncoordinated data spread across several hundred registries in Europe, the Joint Research Centre, together with the Directorate-General for Health and Food Safety, had launched the European Platform for Rare Disease Registration in 2019. The aim of the platform is to make patient data on rare diseases searchable and discoverable, while respecting the General Data Protection Regulation, and thus useful for researchers, health professionals, patients and policy makers.