Uniting for Rare Diseases: When Alignment Accelerates Progress
Published in Biomedical Research and Law, Politics & International Studies
When you read the article, one key word stands out in your mind for the rare diseases community: alignment.
This alignment enables all stakeholders in the ecosystem to move forward together: they identify the challenges, design approaches to address them, and drive their effective implementation, including through policies and other non‑scientific areas. Such synergies yield important benefits for rare disease patients. Alignment helps us to learn from each other's positive examples, organise information more effectively, make the most of our human resources, and avoid duplication, all of which benefits patients.
The work presented in the paper, developed over the five years of the European Joint Programme on Rare Diseases (EJP RD), represents a collaborative effort to bring together the research and innovation needs of our ecosystem, the status of national plans and strategies for rare diseases across EJP RD member countries, and discussions on challenges affecting the community, with special focus on those faced by underrepresented countries. The creation of National Mirror Groups was another key pillar within EJP RD’s alignment strategy.
Capturing the landscape of such a rich and challenging environment required multiple methodologies, careful task coordination, data integration, and the collection of sources, needs, discussions, and analyses of the observed outcomes. When we attempted to present all the results and findings on paper, we encountered yet another challenge.
The internal and external information and data we handled were compiled into hundreds of pages of documentation produced over five years. Although some parts of the article could have stood alone as independent papers, when we began designing the manuscript we felt it was essential to integrate all activities, results, and their interconnections to reflect the alignment spirit of the EJP RD framework. We truly wanted to show how each activity was linked and how the outcomes emerged from those connections.
We had to rewrite it several times—restructuring, refining, and condensing the information to make it truly navigable. It was a demanding process, but in the end, we made it happen.
In our results, we observed a clear trend of progress and needs addressed by the program year after year, but there is still a long way to go. Our objectives and goals enter a new chapter with the European Rare Diseases Research Alliance (ERDERA), and we hope to continue tackling the challenges faced by the rare diseases community, with all the previous experience.
M. Sánchez, R. Sarmiento, C. Moreau, E. Bermejo and C.Carta
* Rare Disease Day 2026 is a call for equity, not one-size-fits-all solutions. The campaign, coordinated by EURORDIS – Rare Disease Europe and delivered through 72 national alliances, puts representation and fair access to diagnosis, care and research at the centre.
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Health Research Policy and Systems
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