As Rare Disease Day 2025 comes to a close, its impact continues to resonate across Europe and beyond. Held annually on the last day of February, this year’s event drew critical attention to the 30 million people in Europe living with a rare disease, underscoring the urgent need for faster diagnoses, increased research, improved treatments, and stronger policies.
Among the initiatives making strides in this space is ERDERA, the European Rare Disease Research Alliance. Having launched in late 2024, ERDERA took part in Rare Disease Day for the first time this year. While the event often shapes awareness efforts and policy recommendations, ERDERA is committed to turning these discussions into tangible action.
“We have three main goals,” says ERDERA’s Coordinator, Daria Julkowska. “First, to accelerate diagnosis and reduce the average time to six months after medical attention. Second, to drive the development of new treatments. And finally, to improve the quality of life for people living with rare diseases”.
Breaking Barriers in Diagnosis
ERDERA enters the rare disease landscape at a critical moment. Built on a foundation of European collaboration, the alliance is committed to reducing diagnostic delays—a significant and common challenge faced by rare disease patients. ERDERA seeks to shorten this time using knowledge- and data-driven methodologies as well as strengthened research networks, all while remaining patient-centred.
To this end, its Clinical Research Network is a cornerstone of the alliance’s mission, pushing the boundaries of research through a connected network for enhanced diagnostics, improved clinical trial readiness, and support for developing advanced therapies for rare diseases.
“Every research hospital, patient registry, and expert need to engage with the same data sharing framework to provide interoperable research-ready data. This coordinated approach sets the stage for the real challenge—integrating that data on a larger scale for clinical research purpsoses.”, says Holm Graessner, who is co-leading the Clinical Research Network in ERDERA.
Data sharing is the key
Because each rare disease affects a relatively small number of patients—often fewer than 1 in 2 000 people—collecting sufficient evidence at a national or single-institution level is a formidable challenge. The limited data available make it difficult to draw robust conclusions, develop effective treatments, or optimise patient care. That is why data sharing and collaboration across institutions are crucial.
Building on the success of its predecessor, the European Joint Programme on Rare Diseases (EJPRD), ERDERA continues to advance a Virtual Platform that collects, integrates, analyses, and shares rare disease data. ERDERA’s expanded Virtual Platform will enable broader global data exchange, gathering critical evidence through case studies, the Clinical Research Network, and the alliance’s funded projects.
To bring this ambition into action, all key actors in the rare disease ecosystem must have a voice. Alexandre Méjat, leading the ERDERA program accelerating cutting-edge research through strategic alliances, and living as a rare disease patient, advocate, and researcher, says: “This is both the strength and the risk of ERDERA, because we need to successfully bring everyone on board—especially the ERNs that handle everyday patient care and the pharma companies that develop treatments. We need to show them that Europe is an excellent place to conduct clinical trials and provide treatment access. We also have to keep fuelling fundamental research, because many pathologies still don’t have even a theoretical approach to therapy”.
Softening disparities collectively
More than 180 public and private stakeholders from 36 countries—including patient organisations, research institutions, industry partners, regulators, and governmental bodies—have united under ERDERA to advance rare disease research across Europe. A key element of this effort is the private sector, which fosters innovation by expediting the development of new diagnostics and treatments and helping bring them to market.
Recognising the need to level the playing field, ERDERA is committed to reducing discrepancies between countries by aligning national and international rare disease research strategies. This is especially vital in regions that have yet to implement comprehensive national plans. Through collaboration and coordination, ERDERA aims to strengthen research capacities and boost operational efficiency for all involved.
“By engaging underrepresented countries, supporting National Mirror Groups, and promoting cross-border collaboration, ERDERA seeks to address inequalities in healthcare infrastructure and scientific expertise, ultimately fostering greater equity in rare disease research and care,” explains Anabela Isidro, a board member of the Agency for Clinical Research and Biomedical Innovation (AICIB) and coleader of Aligning Inter(national) Capacities within ERDERA.
Looking Ahead: A Future Built on Collaboration and Innovation
The conversations and initiatives arising from Rare Disease Day reinforce the urgency of advancing research and collaboration, paving the way for new solutions. ERDERA’s participation marks a significant step forward in the European research landscape. By driving collaboration, investing in cutting-edge innovations, and advocating for patient-focused policies, ERDERA is helping reshape the future of rare disease research.
While challenges remain, the momentum generated by ERDERA signals a shift towards a more coordinated, patient-focused approach—one that prioritises tangible progress and meaningful improvements in care and treatment.
