Uniting for Rare Diseases: When Alignment Accelerates Progress

Rare Disease Day 2026* is approaching, and this post is a tribute to everyone who works tirelessly to drive research and innovation within the rare diseases community. Their efforts support patients and their families, addressing a problem that affects up to 300 million people worldwide.
Uniting for Rare Diseases: When Alignment Accelerates Progress
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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 - Health Research Policy and Systems

Background The European Joint Programme on Rare Diseases (EJP RD) was an initiative that sought to integrate different rare disease strategies into a research ecosystem. This paper summarizes the work of the dedicated work package on Integrative Research and Innovation Strategy and outlines recommendations to facilitate alignment with National Plans and Strategies for Rare Diseases. Methods We carried out three periodic surveys (in 2020, 2021 and 2023) on the status of national plans and strategies (NP/NS) for rare diseases in EJP RD member countries. Using the feedback from the surveys and other sources, we developed an annual mapping of research and innovation needs and their alignment with the EJP RD programme. A review of the findings and progress from these approaches – including two strategic policy workshops and the development of National Mirror Groups – informed the recommendations to bridge the gap between national efforts and European strategies. Results A total of 34 countries responded to at least one survey. Implementation is uneven: 76% of countries have had their NP/NS approved at some point, but renewals are irregular. For EU13 countries, the most frequent barrier to developing, improving and translating rare disease (RD) research results was funding. In terms of the Programme’s activities covering mapped needs, we achieved global coverage of 65.8%, with greater coverage of needs for both the diagnostic pathway and the treatment pathway (71%). Four National Mirror Groups were developed during the Programme’s first 5 years, and a further seven were established by mid-2024. Conclusions 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.

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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