Rare diseases

EU research on rare diseases

In the European Union, a rare disease is one that affects no more than 5 in 10 000 people. In 2026, it is estimated that there are 6528 distinct rare diseases that affect between 18-34 million people in the EU, 29-54 million in Europe and 324-609 million people in the world.

The area of rare diseases (RD) has been long recognised as a field where EU and international collaboration is an indispensable condition to progress. The ERA-Net E-Rare, launched in 2006 under the 6^th EU research and innovation framework programme (FP6), was the first action bringing together the national agencies to jointly fund and coordinate rare diseases research.

The EU has further supported the field extensively through its research and innovation framework programmes, with more than €5 billion made available in the past 25 years. More specifically, from 2007-2020 the EU allocated €3.2 billion to more than 550 projects on multinational research consortia in the area of rare diseases, under the 7^th Framework Programme (2007-2013) and Horizon 2020 (2014-2020).

As such, the EU supports the formation of research networks with the participation of universities, research organisations, healthcare providers, SMEs, large industry and patient organisations from across Europe and beyond. These EU-funded projects span all medical areas including neurological, immunological, metabolic diseases or rare cancers, and contribute to the understanding of the causes and characteristics of rare diseases. They also help to develop new diagnostics and therapies for patients and to promote the uptake of good practices in the healthcare systems. Such collaborations allow researchers, clinicians, companies and patient organisations to pool resources, data and complementary expertise, which no individual country could achieve alone.

Horizon Europe: Strategic Partnerships and multinational research

Horizon Europe (2021-2027), the current R&I framework programme, continues to support research on rare diseases with more than €800 million that have been committed under its work programmes 2021-2023 for new RD research actions.

Notably the European Partnership on rare diseases, ERDERA (European Rare Diseases Research Alliance) (2024-2031) was launched as a co-funded partnership between the European Commission and the national (regional) research funders of the EU Member States, Associated Countries and beyond. It is expected to catalyse a systemic transformation in the area, with the goal of improving the quality of life for people living with a rare disease. With over 170 partners in 37 countries and a planned budget of €380 million that include up to €150 million of EU support, ERDERA mobilises additional national funds by supporting research via Joint Transnational Calls, but also implements a wide range of integrating activities to advance the whole RD research ecosystem.

Prior to ERDERA, the EU supported the European Joint Programme on Rare Diseases (EJP RD) (2019-2024), involving more than 135 institutions in 35 countries and a total budget of over €100 million, including €55 million of EU support.

Horizon Europe supports 9 new running consortia developing novel therapies by grouping RDs based on their commonalities, while other consortia focus on strengthening the interoperability of the RD data ecosystem in rare cancers and paediatric transplants, on advancing research on rare metabolic diseases or on regulatory needs in the development of orphan and paediatric medicines. Participation in these projects of patients’ organisations and of research infrastructures are key to success.

The European Rare disease research Coordination and support Action (ERICA) (2021-2025) coordinates and supports the clinical research activities of the European Reference Networks (ERNs). ERICA unites the expertise of the 24 ERNs and creates a collaborative platform to share and develop knowledge, good practices and tools thanks to transdisciplinary research groups across the different medical areas. ERICA organised the first ERN Research Conference in December 2024.

ERICA and ERDERA allow for key synergies between research and innovation funding and actions under the EU4Health programme (ERN coordination grants, Joint Action JARDIN on the integration of ERNs in national healthcare systems etc.)

Moreover, impactful public-private consortia were launched under Horizon Europe Joint Undertaking Innovative Health Initiative (IHI) and they are contributing to RD research in a complementary manner, as RealiseD, Screen4Care or Conect4Children projects showcase.

Global Partnerships

The International Rare Diseases Research Consortium (IRDiRC) is a flagship initiative launched in 2011 by the European Commission and the US National Institutes of Health, with the aim to foster and coordinate research on rare diseases around the globe. IRDiRC brings together more than 60 partners in23 countries, being a consortium of national and international governmental and non-profit funding bodies, companies, umbrella patient advocacy organisations and scientific researchers.

The three IRDiRC goals are inspiring research funders and researchers:

• diagnosing within 1 year all patients coming to medical attention, with a suspected rare disease
• contributing to the development of 1000 new therapies
• and assessing the impact of diagnoses and therapies on rare diseases

These goals guide the work of ERDERA which also hosts its scientific secretariat.