EU research on rare diseases

In the EU, a rare disease is one that affects no more than 1 person in 2,000.  This means that between 6,000 and 8,000 different rare diseases affect or will 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 made major investments during the last two decades to support cross-border and interdisciplinary research for rare diseases. More than €1.4 billion has been made available from FP7 and Horizon 2020 to more than 200 collaborative research and innovation projects in the area of rare diseases.

Such collaborations allow researchers, clinicians, companies (including SMEs) and patient organisations to pool resources to increase the understanding of rare diseases, develop new diagnostics and therapies for patients, and promote best practices for used in hospitals and healthcare systems.

The launch in January 2019 of the European Joint Programme on Rare Diseases (EJP RD) marked an important milestone in Europe. The EJP RD is creating a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation.

The project pools together 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 35 countries, including 26 out of 27 EU countries. The EU contributes €55 million out of a total investment of over €100 million.

Related links

EU rare diseases research (Factsheet)

Showcasing development of therapies for rare diseases (Factsheet)

Horizon 2020 projects to develop diagnostic tools and therapies for rare diseases

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

World Rare Diseases Day

European Reference Networks

Funding opportunities

  • Horizon 2020

    Funding for health under the research and innovation framework programme, Horizon 2020. 

Collaboration and jobs

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.

  • Health programmes database

    Database that provides information on the nature of health projects and their results. Managed by the Commission's Consumers, Health, Agriculture and Food Executive Agency.

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.



  • Research enquiry service

    You can contact the research enquiry service to find out more about research in Europe, the EU's research and innovation funding programmes as well as calls for proposals and project funding.  

  • National contact points

    The national contact points (NCP) network gives guidance and information on participating in Horizon 2020. NCPs are established in all EU countries and many non-EU countries.

  • European IP Helpdesk

    Service that offers an intellectual property rights helpline, training and online library.

  • Enterprise Europe Network

    The Enterprise Europe Network is the world’s largest support network for small and medium-sized enterprises (SMEs) with international ambitions. 

Related Commission departments