In the EU, rare diseases, including those of genetic origin, are life-threatening, chronically debilitating and of low prevalence.
Low prevalence means rare diseases affect a small portion of the population; less than 5 per 10 000 people in the Community’ (Decision No 1295/1999/EC of the European Parliament and of the Council of 29 April 1999). In the EU:
- between 27 and 36 million people live with a rare disease
- between 6 000 and 8 000 distinct rare diseases are estimated to exist today
- while one rare disease may affect only a few patients, others may affect as many as 245 000
- Around 80% of rare diseases are of genetic origin
- 70% of rare diseases start in childhood
What the EU is doing
The EU's strategic objective for rare diseases is to improve patient access to diagnosis, information, and care. It assists in pooling scarce resources spread across the EU, enabling patients and professionals to share expertise and information.
The European response aims to:
- set up and support the European Reference Networks (ERNs)
- develop and manage a secure and GDPR-compliant IT platform to support cross-border medical discussions: the Clinical Patients Management System 2.0 (CPMS 2.0)
- develop and manage the European Platform on Rare Disease Registration (EU RD Platform)
- support the definition, codification and inventory of rare diseases
- support the designation and authorisation of orphan medicinal products
- expand the knowledge base also through research and innovation
- develop new therapies and diagnostic tools for rare diseases
- enhance making rare diseases registries and data FAIR (Findable, Accessible, Interoperable, and Reusable)
- improve the recognition and visibility of rare diseases, also at global level via the International Rare Diseases Research Consortium (IRDiRC)
- empower patient organisations
- promote the development of national rare diseases plans and strategies
Research and development
Rare disease research has been an EU priority for the last two decades.
From 2007 to 2020, more than €3.2 billion was invested in more than 550 collaborative research and innovation projects related to rare diseases through:
- the Seventh Framework Programme (FP7)
- Horizon 2020, the European Commission’s framework programmes for research and innovation
- Horizon Europe (2021-2027), the new funding programme, which will continue to support these efforts.
Several research projects funded by the EU tackle a wide variety of rare diseases.
The EU has supported the coordination between research funders across Europe and beyond.
Among the many research projects, we mention public-private projects such as Conect4Children or SCREEN4CARE, which are key to bring solutions for rare disease patients.
A European Partnership on rare diseases (ERDERA) was launched on 28 October 2024. Co-funded by Member States and the Commission under the Research & Innovation Programme Horizon Europe for a total amount of over EUR 350 million, it brings together over 170 organisations from the public and private sectors.
ERDERA has been set up to build on the advancements made by former EU funded projects such as SOLVE-RD, ERICA, and the European Joint Programme for rare Diseases (EJP RD), and aims to develop new diagnostic methods and pathways, and to support concrete health benefits to rare disease patients, through better prevention, diagnosis, and treatment, while ensuring strong alignment of strategies in rare diseases research across countries and regions.
National plans for rare diseases
The Council Recommendation of 2009 on an action in the field of rare diseases, amongst other things, recommended that Member States establish and implement plans or strategies for rare diseases to aim to ensure that patients with rare diseases have access to high-quality care.
The Joint Action JARDIN on integration of the ERNs into national healthcare systems will seek to achieve the sustainability of the ERNs by their integration into updated national plans and strategies for rare diseases.
European Platform on rare diseases registration
The Joint Research Centre, in collaboration with DG SANTE, has developed and manages the European Platform on Rare Disease Registration (EU RD Platform) to provide a unified access point to rare disease registries and all types of data sources in Europe.
The Platform:
- copes with the fragmentation of rare disease data and promotes interoperability among existing registries and new registries;
- makes registries’ data discoverable, searchable and findable based on the European rare disease registry infrastructure (ERDRI - ERDRI User access guide).
- sets EU-level standards for rare disease data collection and data exchange;
- provides training and support to registries on the use of the tools and services offered;
- operates the Central Registry of the European Network for Congenital Anomalies (EUROCAT)
Its components include:
- the European directory of registries (ERDRI.dor - ERDRI.dor manual)
- the Central metadata repository (ERDRI.mdr - ERDRI.mdr manual),
- the Search broker (ERDRI.sebro) that, via its pseudonymisation (ERDRI.spider), allows linking and transferring RD patients’ data across registries and create patients’ cohorts for studies and research without exposing RD patients’ data to risk;
All ERNs central and local registries and data sources are invited to join the EU RD Platform and contribute to making RD registries data discoverable.
Orphanet
The EU has supported the development and work of Orphanet, the portal for rare diseases and orphan drugs, since the launch of the Programme of Community Action on Rare Diseases (1999-2003).
Orphanet has gradually grown to a Consortium of 40 countries, within Europe and across the globe, and it is involved in many EU-funded research projects on rare diseases (e.g. ERICA, ERDERA etc.).
Orphanet is a digital platform that:
- Gathers, improves, and provides high-quality information on rare diseases to improve the diagnosis, care and treatment of patients with rare diseases.
- maintains the Orphanet rare disease nomenclature (ORPHAcode, also supported by the European Commission), which is an internationally valid classification system for rare diseases that serves to identify rare disease patients.
This codification system was identified as a best practice by the Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases (SGPP), and its implementation supported via the RD Code project (2019-2021).
Legal framework
All legal documents related to rare diseases at EU level
