The European joint programme on rare diseases: building the rare diseases research ecosystem
Yanis Mimouni, Juliane Halftermeyer, Yanna Petton, Pauline Adam, Clément Moreau, Ana Rath, Roseline Favresse, Birute Tumiene, Daria Julkowska
Abstract
The European Joint Programme on Rare Diseases (EJP RD) represents a significant step forward in the rare diseases research ecosystem, integrating over 130 institutions from 35 countries. It focuses on streamlining the process from basic research to clinical application, fostering collaboration at an international scale, and emphasizing patient engagement. The initiative has funded numerous projects across various medical domains, developed the Rare Diseases Virtual Platform, and significantly impacted the rare disease landscape through training, project mentoring, and innovative methodology developments. Expanding beyond, EJP RD collaborates with various initiatives to optimize resource use and is evolving into the European Rare Diseases Research Alliance, aiming to accelerate diagnostics, develop innovative therapies, and assess the rare disease burden to inform policy decisions.