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Rare diseases

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 European Reference Networks (ERNs)
  • 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 FAIRification of rare diseases registries and data
  • 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. 

The launch in 2019 of the European Joint Programme on Rare Diseases (EJP RD co-fund) marked an important milestone in Europe.

  • EJP RD is creating a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation.
  • EJP RD pools resources at national and European level at a scale never achieved before. It gathers research funders, universities, research organisations and infrastructures, hospitals (including ERNs) and patient organisations from more than 135 institutions in 35 countries, including 26 out of 27 EU countries.
  • The EU contributes €55 million out of a total investment of over €100 million.

The ERICA consortium (European Rare disease research Coordination and support Action) started to work in 2021 to coordinate ERNs clinical research activities.

ERICA unites the expertise of the 24 ERNs and other partners including Eurordis, Orphanet and research infrastructures. It creates a collaborative platform to share knowledge and good practices by assembling trans-disciplinary research groups across  different medical areas.

The research project Solve-RD also uniting experts from several ERNs helped solving and diagnosing “unsolved rare diseases” and will be further rolled out.

Public-private projects such as Conect4Children or Screen4Care are also key to bring solutions for rare disease patients.

A European Partnership on rare diseases (ERDERA) co-funded by Member States and the Commission under the Research & Innovation Programme Horizon Europe (EU funding up to €150 million) will be launched in fall 2024.

ERDERA aims to:

  • develop new diagnostic methods and pathways
  • support concrete health benefits to rare disease patients, through better prevention, diagnosis, and treatment
  • ensure 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. 

These national plans or strategies can also help promote ERNs at national level and facilitate the exchange of best practices among EU countries. The Joint Action JARDIN on integration of the ERNs into national healthcare systems will also seek to achieve the sustainability of its proposed actions and implementations 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.

Later this year, a European Partnership on rare diseases (ERDERA) co-funded by Member States and the Commission under the Research & Innovation Programme Horizon Europe (EU funding up to €150 million) will be launched.

This Partnership 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.

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 aims:

  • to provide high-quality information on rare diseases and ensure equal access to knowledge for all stakeholders
  • to maintain the rare disease nomenclature ORPHAcode:
    • 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). 
    • ORPHAcode is an internationally valid classification system for rare diseases that serves to identify rare disease patients

Orphanet is also involved in many EU-funded research projects on rare diseases (e.g. ERICA, EJP RD etc.).

Legal framework

All legal documents related to rare diseases at EU level