Integrative research and innovation strategy for rare diseases. Insights from the 5-year European joint programme on rare diseases, including analysis to inform recommendations for future actions
Despite recent progress in establishing a research ecosystem for rare diseases in Europe, several challenges remain and should be addressed. These include availability and accessibility of diagnostics, medicines and medical devices across Europe, inequalities between and within countries, compliance with the FAIR data principles and the lack of a comprehensive policy framework to integrate different rare diseases initiatives. Next actions need to strengthen the coordination and alignment of funding and national policies, innovation in the translation of research results and the reach of a holistic research ecosystem. National Mirror Groups will play an important role in this respect.
Authors
- Claudio Carta (ORCID: https://orcid.org/0000-0003-3545-198X)
- Eva Bermejo (ORCID: https://orcid.org/0000-0001-7282-2714)
- Laura L. Cellai
- Daria Julkowska (ORCID: https://orcid.org/0000-0002-7886-9529)
- Piotr Fiedor (ORCID: https://orcid.org/0009-0002-7514-0887)
- Domenica Taruscio (ORCID: https://orcid.org/0000-0001-5403-233X)
- Manuel Posada de la Paz (ORCID: https://orcid.org/0000-0002-8372-4180)
- Marta De Santis (ORCID: https://orcid.org/0000-0002-9516-1901)
- Marcin Bartoszewicz (ORCID: https://orcid.org/0009-0008-6528-2746)
- Clément Moreau
- Rodrigo Sarmiento-Suárez
- María del Carmen Sánchez-González
Institutions
- Inserm (FR)
- Medical University of Warsaw (PL)
- Istituto Superiore di Sanità (IT)
- Instituto de Salud Carlos III (ES)
- Instituto de Investigación de Enfermedades Raras (ES)
Publication Details
- Journal
- Health Research Policy and Systems
- Published
- 2025-10-16
- DOI
- https://doi.org/10.1186/s12961-025-01389-7
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Instituto de Salud Carlos III