Any disease affecting fewer than 5 people in 10,000 in the EU is considered rare. Although this might appear small, it translates into approximately 246,000 people. Most patients suffer from even rarer diseases affecting 1 person in 100,000 or more. Approximately 5,000-8,000 distinct rare diseases affect 6-8% of the EU population i.e. between 27 and 36 million people.
What is the EU 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. Specific measures include:
- Improving recognition and visibility of rare diseases
- Ensuring that rare diseases are adequately coded and traceable in all health information systems
- Supporting national plans for rare diseases in EU countries
- Creating European reference networks linking centres of expertise and professionals in different countries to share knowledge and identify alternative treatment options
Patient organisations are particularly important because they provide additional incentives for developing orphan drugs to combat rare diseases.
European Platform for rare diseases registration
Patient registries and databases encourage the development of clinical research in the field of rare diseases, as well as improve patient care, and healthcare planning. No uniform standards govern the collection, organisation, or availability of this data. More than one registry often exists for the same rare disease, while existing registries account for approximately only 20% of all rare diseases.
The European Commission is therefore advocating for the creation of a European Platform on Rare Diseases Registration that would act as the focal point for rare diseases registries in the EU.
The Orphanet report on disease registries provides a complete list of the 600 rare diseases registers in Europe.
National registries on rare diseases
- Spanish Rare Diseases Registries Research Network-Spain RDR
- Registro Nazionale Malalttie Rare – Italy
Technical projects on rare diseases registration
RD-CONNECT is an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.
Research into rare diseases
The EU supports research into rare diseases through Horizon 2020, the EU Framework Programme for Research and Innovation. Horizon 2020 is the biggest EU Research and Innovation programme ever, with nearly €80 billion of funding available over 7 years (2014 to 2020). Close to €900 million, is available to more than 160 collaborative projects related to rare diseases.
- Communication on rare diseases: Europe's challenges COM(2008) 679 final
- Recommendation on an action in the field of rare diseases (2009/C 151/02)
- Implementation report on the Commission Communication and Council Recommendation on rare diseases
Implementation of best practices
- Orphacodes – Codification for Rare Diseases