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 €1.8 billion has been invested in more than 320 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 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.
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
- CAR-T cell therapy advances treatment for multiple myeloma
- 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
- New hope for people with rare kidney diseases
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
SLAMF7-CAR T cells prepared by Sleeping Beauty gene-transfer for immunotherapy of multiple myeloma – a rare hematologic disease
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
Immunome project consortium for AutoInflammatory Disorders
Innovative methodology for small populations research
Developing genetic medicines for severe combined immunotherapy
Solving the unsolved Rare Diseases (see article)
Novel therapeutic approaches for the treatment of cystic fibrosis based on small molecule transmembrane anion transporters
Developing new therapies for uveal melanoma (see article)
Innovative steroid-like intervention on Duchenne muscular dystrophy