Rare diseases

Rare diseases affect more than 30 million Europeans. Many of the 6000 to 8000 different rare disease entities manifest during the childhood, are life threatening and devastating conditions and represent a significant burden for the affected individuals and their families.

What the EU is doing

Rare disease is a priority for the European Commission since many years.

More than €1.4 billion has been invested in more than 200 collaborative research and innovation projects related to rare diseases through the Seventh Framework Programme (FP7) and Horizon 2020 the European Commission’s current framework programme for research and innovation. Projects for policy report "Rare diseases – a major unmet medical need" highlights how EU funded projects contributes to the policies in the field.

The European Joint Programme on Rare Diseases EJP RD, that started this year, aims at establishing a research and innovation pipeline ensuring rapid translation of research results into clinical applications and uptake in healthcare. EJP RD involves research funders, universities, research organisations, research infrastructures, hospitals and patient organisations from 35 countries.

The European Reference Networks (ERNs) interlink healthcare providers across Europe regrouped under 24 rare disease related thematic areas. ERNs enable cross border exchange between healthcare providing centres to facilitate patients' access to diagnosis and the best advice and treatment available for their specific condition. They operate under the underlying principle that expertise and knowledge travel, rather than the patient.

The International Rare Disease Consortium (IRDiRC), brings together funding bodies and organizations committed to invest in rare diseases research to accelerate and advance the development of diagnostics and therapies for rare diseases.

Success stories

Read some of the success stories of EU funded research in rare diseases.

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Several projects funded by the EU aim to tackle a wide variety of rare diseases.


    Clinical development of a vaccine therapy for acute myeloid leukaemia.


    Advances in small trials design for regulatory innovation and excellence.


    Advanced cell-based therapies for the treatment of primary immunodeficiency.


    New, personalised treatment concepts for rare anaemia/


    A safe, efficient gene therapy trial for Fanconi Anaemia patients


    Integrated design and analysis of clinical trials in small population group trials.


    Intra erythrocyte dexamethasone in the treatment of ataxia telangiectasia.

  • ImmunAID

    Immunome project consortium for AutoInflammatory Disorders

  • InSPiRe

    Innovative methodology for small populations research.


    Developing genetic medicines for severe combined immunotherapy.

  • TAT-CF

    Novel therapeutic approaches for the treatment of cystic fibrosis based on small molecule transmembrane anion transporters

  • UM Cure 2020

    Developing new therapies for uveal melanoma.

  • Vision-DMD

    Innovative steroid-like intervention on duchenne muscular dystrophy.

Find more projects