On 16 –17 June, the conference “Advancements in Treatment for Rare Diseases” took place under the Cyprus Presidency. The event brought together representatives from the scientific community, patient organisations, NGOs and policymakers to discuss the future of rare disease research, innovation and treatment across Europe.
Rare diseases affect a significant share of the European population. According to figures presented, between 27 and 36 million people in Europe are living with a rare disease – approximately one in every 17 citizens. Addressing the needs of these patients is therefore not only a social imperative, but also an economic necessity.
Against this backdrop, the policy landscape surrounding rare diseases continues to evolve. In recent years, the European Commission has introduced a number of initiatives aimed at strengthening Europe’s life sciences ecosystem and fostering innovation. These include the Life Sciences Strategy, the Biotech Act, the Bioeconomy Strategy, the Startup and Scale-up Strategy and the Innovation Act. Together, these initiatives provide the framework within which rare disease research and innovation are expected to develop in the coming years.
Innovation and funding: catalysts for progress
The European Commission used the conference to highlight the importance of rare diseases within the broader European research and innovation agenda. Support extends across the entire innovation pathway, from basic and preclinical research to clinical development and market deployment.
Unsurprisingly, at the center of this support is Horizon Europe. Rare diseases are addressed through Cluster Health calls, collaborative research and innovation actions and the Cancer Mission. In addition, public-private partnerships such as the Innovative Health Initiative (IHI) help bring together industry, researchers and public stakeholders to accelerate innovation.
These efforts are complemented by co-funded partnerships involving EU Member States and associated countries, Marie Skłodowska-Curie Actions that support researcher mobility and skills development, the European Research Council (ERC), which funds pioneering research and the European Innovation Council (EIC), which helps scale breakthrough technologies and supports innovative startups and SMEs.
Particular attention was given to ERDERA – the European Rare Disease Research Alliance. Bringing together more than 170 public and private organisations across 37 countries, ERDERA represents one of the most ambitious efforts to coordinate rare disease research at the European level and strengthen collaboration across the entire research ecosystem.
From research to patients: strengthening clinical trials
While research funding remains essential, that scientific discoveries only create value when they can be translated into effective treatments. For this reason, clinical trials emerged as one of the central themes of the conference.
The European Commission’s ambition to establish Europe as an attractive and efficient location for innovative clinical trials was outlined. Building on both ongoing and planned initiatives, efforts are underway to strengthen clinical trial networks and improve coordination across Member States.
A number of initiatives are contributing to this objective. Joint undertakings such as EU–PEARL (European Patient–CEntric Clinical Trial Platform) are supporting the development of innovative clinical trial methodologies, while ERICA (European Rare Disease Research Coordination and Support Action) continues to work towards ensuring equal opportunities for all stakeholders involved in rare disease research.
It’s important to take note of the challenges facing non–commercial clinical trials, which largely remain organised at national level. In this context, ERDERA introduces an important new element by planning dedicated clinical trial calls and support mechanisms for research teams seeking to bring innovative therapies closer to patients.
Alongside funding and coordination, regulatory and research infrastructures were identified as critical enablers of progress. The EU Rare Disease Platform, supported by the European Commission, continues to facilitate data collection and collaboration across Europe. Looking ahead, the development of a Clinical Research Investment Plan and the forthcoming Biotech Act are expected to further strengthen the environment for clinical research and innovation.
Where should researchers look for funding?
For researchers, clinicians and organisations working in the rare disease field, the European funding landscape offers a broad range of opportunities.
Horizon Europe remains the primary source of support, covering everything from basic research to clinical development. Additional opportunities are available through ERC grants, EIC funding instruments, Marie Skłodowska-Curie Actions, the IHI and the growing portfolio of activities under ERDERA.
Taken together, these instruments demonstrate the European Union’s commitment to supporting rare disease research across all stages of development, from scientific discovery to patient-centred innovation.
The European Commission also provided an overview of upcoming Horizon Europe opportunities relevant to the rare disease community under the 2026–2027 Work Programme. While not all calls are exclusively dedicated to rare diseases, several are expected to be highly relevant for researchers and organisations active in the field.
Examples of upcoming topics include:
2026 topics:
- HORIZON-HLTH-2026-02-DISEASE-12: European Partnership on Rare Diseases (ERDERA) – Phase 2.
- HORIZON-HLTH-2026-01-DISEASE-11: Understanding sex and/or gender-specific mechanisms of cardiovascular diseases: determinants, risk factors and pathways.
- HORIZON-HLTH-2026-01-CARE-01: Public procurement of innovative solutions for improve citizens’ access to healthcare through integrated or personalised approaches.
- HORIZON-HLTH-2026-01-TOOL-07: Establishing a European network of Centres of Excellence (CoEs) for Advanced Therapy Medicinal Products (ATMPs).
2027 topics:
- HORIZON-HLTH-2027-01-STAYHLTH-01: Addressing disabilities throughout the life course to support independent living and social inclusion.
- HORIZON-HLTH-2027-01-IND-01: Development of cell-free protein synthesis platforms for the discovery and/or production biologicals.
Researchers and professionals working in the field of rare diseases are encouraged to keep track not only of funding opportunities under the ERDERA, but also of calls launched by other European Partnerships. These include the European Joint Programme on Rare Diseases (EJP RD), ERA4Health – Fostering a European Research Area for Health, EP PerMed – European Partnership on Personalised Medicine, ERA-NET NEURON, and BrainHealth.
The Research Council of Lithuania (RCL) plays an active role in European Partnerships by supporting Lithuania’s participation in transnational calls, funding successful Lithuanian project partners and providing guidance to applicants and project beneficiaries. If you have questions about European Partnerships or the Horizon Europe programme, RCL’s National Contact Points are available to provide advice on funding opportunities, programme requirements and the application process.
Navigating the European research and innovation funding landscape can be challenging. Success often depends not only on identifying the right funding opportunities but also on finding suitable international partners and staying informed about upcoming calls. The Lithuanian Science and Innovation Relations and Competence Office in Brussels (LINO) helps Lithuanian researchers, healthcare organisations, start–ups and businesses engage more effectively in European research and innovation programmes. LINO provides information on funding opportunities, facilitates international networking, helps identify project partners and keeps stakeholders up to date with the latest developments in EU research and innovation policy and funding programmes.
Lithuania’s contribution to the rare disease ecosystem
Beyond discussions on European policy and funding, the conference also showcased successful national initiatives that demonstrate how research, healthcare and innovation can be integrated in practice. Lithuania was highlighted as an example of how national expertise and research infrastructure can contribute to the broader European rare disease ecosystem.
Professor Birutė Tumienė, Coordinator for Competence Centres at Vilnius University Hospital Santaros Klinikos, presented a clinical model for interdisciplinary knowledge sharing and innovation aimed at accelerating the development of therapies for rare diseases.
Meanwhile, Giedrė Kvedaravičienė, Director of the Lithuanian Population and Rare Diseases Biobank, highlighted the role of national biobanks in supporting both population and rare disease research. The presentations illustrated how national infrastructures can contribute not only to local healthcare improvements but also to broader European and international research efforts.
What does this mean for lithuanian researchers and innovators?
A recurring question is whether current efforts are sufficient to address the many challenges associated with rare diseases. While the answer is unlikely to be a simple one, the discussions in Cyprus demonstrated that rare diseases are receiving increasing attention from policymakers, researchers, industry and patient organisations alike.
The growing number of policy initiatives, funding opportunities and collaborative partnerships suggests that rare diseases are becoming a stronger priority within the European research and innovation agenda. While significant unmet needs remain, increased visibility is often the first step towards increased investment and ultimately towards better outcomes for patients. For Lithuania, this creates new opportunities to join international research consortia, secure European funding, and contribute to the development of innovative diagnostic and therapeutic solutions.
