Imagine having a disease so rare that doctors struggle to diagnose it, researchers have little data to study it, and treatments are scarce. For the 30 million people in Europe living with a rare disease, this is a daily reality. But change is happening.
Over the past five years, the European Joint Programme on Rare Diseases (EJP RD) has been a game-changer, uniting 130+ institutions across 36 countries to build a research ecosystem that moves faster, collaborates better, and puts patients at the centre.
Bridging the Gap: From Lab to Life
Research is only as valuable as its impact on real lives. EJP RD’s mission has been to turn scientific discoveries into real-world solutions by:
- Developing new diagnostic tools and exploring disease mechanisms contributing to earlier and more accurate diagnoses for patients
- Funding life-changing research with €105.55 million invested in 80 projects tackling natural history studies, diagnosis, therapy development, or impact of rare diseases on patients and society.
- Giving patients a voice by ensuring that those affected by rare diseases help shape the research that impacts them.
One of its biggest achievements is the Rare Diseases Virtual Platform (VP) – a digital hub that connects rare diseases data and knowledge sources, facilitating data discovery and collaboration within the rare disease community and beyond. The VP serves as a centralized access point, enabling researchers, clinicians, and patient organizations to efficiently locate and utilise a wide array of resources, including patient registries, biobanks, genomics, and multi-omics repositories, as well as analysis platforms and knowledge bases. By promoting the adoption of FAIR (Findable, Accessible, Interoperable, and Reusable) principles, the VP ensures that data is standardized and easily shareable, while remaining under the control of its owner, accelerating thereby research and fostering cross-border collaborations.
More Than Just Science: A Movement for Change
EJP RD didn’t just fund research—it built a community.
Over 10000 of patients and researchers have been trained through in person or online rare disease courses and mentorship programs. Global partnerships have been formed, supporting dialogue with the European Medicines Agency, and international industry leaders to speed up therapy development. Policy changes have been influenced by providing recommendations on data governance to create better healthcare policies for rare disease patients.
The Next Big Leap: Welcome ERDERA
EJP RD is now evolving into ERDERA – the European Rare Diseases Research Alliance, which took the momentum built by EJP RD and expanded its scope in early 2025. The aim is to create a more structured, well-integrated research ecosystem that accelerates diagnostic timelines, improves patient outcomes, and strengthens collaborations between researchers, clinicians, industry, and patient advocacy organizations.
ERDERA will focus on contributing to the goal of achieving six-month diagnosis timeframe for undiagnosed patients by leveraging artificial intelligence, multi-omics data integration, and advanced genomic tools. It will also work on supporting clinical trials for innovative therapies by strengthening Europe’s research infrastructure and fostering public-private partnerships to fast-track drug development.
Additionally, ERDERA will prioritize the socioeconomic impact of rare diseases, gathering data to shape healthcare policies that ensure equitable access to diagnostics and treatments across Europe. Through its European Clinical Research Network and Acceleration Hub, ERDERA will coordinate cross-border research efforts, optimizing resources to drive scientific breakthroughs.
Why This Matters
With seven more years of funding and over 180 organizations on board, ERDERA is positioned to transform the way rare diseases are understood, treated, and managed.
For too long, rare diseases have been overlooked due to their complexity and low patient numbers. But through science, collaboration, and patient advocacy, that’s changing. With ERDERA, the future of rare disease research isn’t just about breakthroughs in the lab—it’s about real impact, for real people, in real time.
A cure may not always be possible, but faster diagnoses, better treatments, and stronger support systems are. And that’s the future ERDERA is building.
Would you like to be part of it? Follow the journey, share the mission, and help bring rare disease research into a new era.
EJP RD in Numbers
| Category | Percentage |
| Institutions Involved | 130+ |
| Countries Represented | 35 |
| Total Funding invested in research projects (JTC + RD Research Challenges) | € 105.55 million |
| Funded Projects | 80 |
| Years Active | 2019-2024 |
| Patients & Researchers Trained | 10 000+ |
| Research projects involving Patient Advocacy Organisation (PAO)
Research projects involving early career researchers |
100%
44% (including 8 coordinators) |
| Networking Events Supported | 66 |
| National Mirror Groups Established | 11 |
To know more about EJPRD results check its dashboard here.
