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. Today it is estimated that 6000-8000 distinct rare diseases affect  between 27 and 36 million EU citizens.

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 first “ERA-Net E-Rare” - coordination of agencies jointly funding rare diseases research - was for example launched under the 6^th EU research and innovation framework programme (FP6).

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

These EU-funded projects span all medical areas i.e. neurological, immunological, metabolic diseases or rare cancers, and contribute to the understanding of the causes and characteristics of rare diseases, to develop new diagnostics and therapies for patients and to promote best practices for use in hospitals and 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 and the European Partnership ERDERA

Horizon Europe (2021-2027), the current R&I framework programme, continues to support these efforts. Notably the  European Partnership on rare diseases, ERDERA: European Rare Diseases Research Alliance (2024-2031), was launched as a large consortium of over 180 partners from 36 countries, co-funded by the European Commission and national (regional) research funders.  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 a planned budget of €380 million that include up to €150 million of EU contribution, ERDERA is supporting research by funding “Joint Transnational Calls”, but also implementing a wide range of integrating activities to advance the whole RD research ecosystem.

Horizon Europe continues to support research into rare diseases with more than €640 million made available in its work programmes 2021-2022 for new RD research actions. A call on new therapies for rare diseases funds 9 new running projects working on different groups of RDs, while other RD projects 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.

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

European Joint Programme co-fund on Rare Diseases

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, for a total budget of over €100 million, including €55 million of EU contribution. EJP RD boosted the coordination between research funders across Europe and beyond, pooled resources at national and European level, and delivered impact in various dimensions, by gathering research funders, universities, research organisations and infrastructures, hospitals and patient organisations

European Rare disease research Coordination and support Action Consortium (ERICA)

The European Rare disease research Coordination and support Action (ERICA) (2021-2025) aims to coordinate and advance 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.)

International Rare Diseases Research Consortium (IRDiRC)

The International Rare Diseases Research Consortium (IRDiRC) is a flagship initiative launched 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 from 20 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 for 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.

Medical professionals, researchers and people living with a rare disease provided first-hand accounts on how valuable the work of the Consortium is.

Latest