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Research and innovation

Rare diseases

EU research on rare diseases

In the European Union, a rare disease is one that affects no more than 1 person in 2000. Over 6000 distinct rare diseases affect up to 36 million EU citizens

The area of rare diseases 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 6th EU research and innovation framework programme (FP6).

The EU has further supported the field extensively through its framework programmes, with more than €3.2 billion made available from 2007-2020 under the 7th Framework Programme (FP7) and Horizon 2020, to more than 550 projects on multinational research consortia in the area of rare diseases.

These projects span across 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 (including SMEs) and patient organisations to pool resources, data and complementary expertise, which no individual country could achieve alone.

Horizon Europe (2021-2027), the current research and innovation funding programme, continues to support these efforts. Notably, a proposed European Partnership on rare diseases to start in September 2024 (ERDERA proposal) 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.

A funding call on new therapies for rare diseases also enabled 9 new projects to start in 2023 and 2024 for different groups of diseases, while 2 other new projects will deal with modelling and simulation to address regulatory needs in the development of orphan and paediatric medicines.

European Joint Programme on Rare Diseases

The EU has supported the coordination between research funders across Europe and beyond. Launched in 2019, the European Joint Programme on Rare Diseases (EJP RD) is creating a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation, pooling resources at national and European level.

EJP RD gathers research funders, universities, research organisations and infrastructures, hospitals and patient organisations from more than 135 institutions in 35 countries (26 in the EU). The EU contributes €55 million out of a total investment of over €100 million. Importantly, EJP RD involves the 24 European Reference Networks (ERNs).

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

The consortium European Rare disease research Coordination and support Action (ERICA) started its work in 2021, with the aim to coordinate 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 knowledge and good practices through the assembly of transdisciplinary research groups across the different medical areas.

International Rare Diseases Research Consortium (IRDiRC)

The European Commission has been actively driving the international research collaboration and coordination in the field of rare diseases research. In 2011, together with the US National Institutes of Health, the Commission launched the International Rare Diseases Research Consortium (IRDiRC), in order to foster and coordinate international efforts, with the ultimate goal to accelerate medical breakthroughs for people affected by rare diseases.

The vision of IRDiRC is to benefit all people living with a rare disease by: diagnosing within one 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.

Marking the 10 years anniversary of the Consortium, let us take stock of IRDiRC’s achievements thus far and hear first-hand accounts from medical professionals, researchers and people living with a rare disease on how valuable the work of the Consortium is.

Funding opportunities

Funding for health under the research and innovation framework programme, Horizon Europe

Projects and results

Projects in the area of rare diseases on the Commission's primary portal for results of EU-funded research projects

Platform where framework programme funding recipients present their results to search, contact their owners and form partnerships

Collaboration and jobs

Look for project partners and view profiles of all organisations that have received funding via the funding and tender opportunities portal

Supports annual joint transnational calls for proposal for rare diseases research projects, builds coordinated access to data and services, delivers training programs and accelerates innovation and support to clinical trials

Partnership to contribute to priorities of the “Communication on effective, accessible and resilient health systems” and support the objectives of the new EU4Health Programme

A public-private partnership between the European Union and several health industries from the biopharmaceutical, biotechnology and medical technology sectors

Consortium of 59 members including funders, patient advocates and industry from five continents supporting research to enable people with a rare disease to receive a diagnosis, care and therapy within a year of coming to medical attention

Scientific publications, tools and databases

Interactive reporting platform composed of a set of sheets that allows series of views to discover and filter Horizon 2020 data

Single point of access to open data produced by the EU institutions. All data free to use for commercial and non-commercial purposes

You can access all scientific publications from Horizon 2020 via OpenAIRE

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Factsheet29 February 2024
Collaboration: A key to unlock the challenges of rare diseases research

The EU facilitates the formation of multidisciplinary consortia with participants from universities, research organisations, healthcare providers, SMEs, industry and patient organisations from across Europe and beyond.