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 diseases research is one of the EU priorities since the last two decades. More than €2.4 billion has been invested from 2007-2020 in more than 440 collaborative research and innovation projects related to rare diseases through the Seventh Framework Programme (FP7) and Horizon 2020 the European Commission’s past framework programmes for research and innovation. Projects for policy report "Rare diseases – a major unmet medical need" highlights how the results of collaborative research and innovation (R&I) projects funded by the EU contribute to five areas of policy challenges related to rare diseases.

The European Joint Programme on Rare Diseases EJP RD, that started in 2019, 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, including 26 out of the 27 EU Member States. The EU contributes with EUR 55 million, out of a total investment of over EUR 100 million.

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.

• Showcases of EU projects developing therapies for rare diseases
• An innovative alkaptonuria treatment
• Clinical trial for patients with Fanconi anaemia presents its first success
• Pooling resources to make better diagnoses of rare diseases
• New approach to advance drug pipeline for cystic fibrosis
• Supporting global cooperation in rare disease research
• Towards an effective gene therapy for Batten disease
• Rare diseases, precious data: global platform connects researchers
• Omics, sweet omics – curing the incurable, one disease at a time
• Gene therapy trials point to cure for rare liver disease

Find more success stories

Projects

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

• AML-VACCiN

  Clinical development of a vaccine therapy for acute myeloid leukaemia

• ASTERIX

  Advances in small trials design for regulatory innovation and excellence

• CARAMBA

  SLAMF7-CAR T cells prepared by Sleeping Beauty gene-transfer for immunotherapy of multiple myeloma – a rare hematologic disease

• CELL-PID

  Advanced cell-based therapies for the treatment of primary immunodeficiency

• COMMITMENT

  New, personalised treatment concepts for rare anaemia

• EUROFANCOLEN

  A safe, efficient gene therapy trial for Fanconi Anaemia patients

• IDEAL

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

• IEDAT

  Intra erythrocyte dexamethasone in the treatment of ataxia telangiectasia

• ImmunAID

  Immunome project consortium for AutoInflammatory Disorders

• InSPiRe

  Innovative methodology for small populations research

• SCIDNET

  Developing genetic medicines for severe combined immunotherapy

• Solve-RD

  Solving the unsolved Rare Diseases (see article)

• 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 (see article)

• Vision-DMD

  Innovative steroid-like intervention on Duchenne muscular dystrophy

Find more projects