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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 2,000.  Between 6,000 and 8,000 different rare diseases affect an estimated 30 million people in the EU.

The area of rare diseases has been long recognised as a field where EU and international collaboration is an indispensable condition to progress. 

The EU has supported the field extensively through its research and innovation framework programmes, with more than €2.4 billion made available from 2007-2020 under the Seventh Framework Programme (FP7) and Horizon 2020, to more than 440 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 new research and innovation funding programme, will continue to support these efforts. Notably, a proposed European Partnership on rare diseases 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.

In addition to EU-funded collaborative projects, specific initiatives offer a solid framework for enhanced cooperation in the area.

European Joint Programme on Rare Diseases

The EU has supported the coordination between research funders across Europe and beyond. The launch in January 2019 of the European Joint Programme on Rare Diseases (EJP RD) marked an important milestone in Europe.

EJP RD is creating a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation. EJP RD pools resources at national and European level at a scale never achieved before.

It gathers research funders, universities, research organisations and infrastructures, hospitals and patient organisations from more than 135 institutions in 35 countries, including 26 out of 27 EU countries.

The EU contributes €55 million out of a total investment of over €100 million. Importantly, EJP RD involves the 24 European Reference Networks, representing more than 1500 units that provide highly specialised care across Europe on complex or rare diseases conditions.

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

A new consortium, the European Rare disease research Coordination and support Action(ERICA) is starting its work in March 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 will create 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.

Related links

EU rare diseases research (Factsheet)

Showcasing development of therapies for rare diseases (Factsheet)

Rare diseases - a major unmet medical need infographic, report, leaflet

World Rare Diseases Day

European Reference Networks

Funding opportunities

Horizon Europe

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

Projects and results

EU-funded projects (CORDIS)

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

Project success stories

Stories of particularly successful EU-funded research projects.

Horizon Results Platform

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

Collaboration and jobs

Find project partners

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

European Joint Programme on Rare Diseases (EJP RD)

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.

ERA-Net for Research Programmes on Rare Diseases (E-Rare)

Co-funded joint calls for rare diseases with the aim of better aligning national funding programmes. The ERA-NET rare disease research implementing IRDiRC objectives (E-Rare-3) finished at the end of 2020. Its results serve the broad rare disease community. 

Innovative Medicines Initiative (IMI)

Supports projects accelerating the research and development process for drugs for rare diseases, such as Accelerating research and development for advanced therapies (ARDAT) or Conect for Children (C4C), a collaborative European network building capacity for the implementation of multinational paediatric clinical trials. A recent call for research proposals also foresees support to faster diagnosis for rare diseases.

International Rare Diseases Research Consortium (IRDiRC)

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.

Jobs (EURAXESS)

Researcher jobs in related fields

The European Platform on Rare Disease Registration (EU RD Platform)

The European Platform on Rare Disease Registration (including its European Rare Disease Registry Infrastructure, ERDRI) provides researchers, healthcare providers, patients and policy-makers with a consistent instrument to improve knowledge, diagnosis and treatment of rare diseases. It will make registries' data searchable and findable at EU level and will standardise data collection and data exchange.

Scientific publications, tools and databases

Horizon 2020 dashboard

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

Scientific publications

Scientific publications produced by the European Commission (JRC).

EU Open Data Portal

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

OpenAIRE

You can access all scientific publications from Horizon 2020 via OpenAIRE.