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Key concepts

What are rare diseases?

The European Commission Public Health Programme defines rare diseases as life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them. The term low prevalence is later defined as generally meaning fewer than 1 in 2,000 people.

Rare diseases usually are genetic, hence chronic. Other rare diseases are the result of infections and allergies or due to degenerative and proliferative causes.

For some of them symptoms may appear at birth or in childhood, whereas others only appear once adulthood is reached. Rare diseases affect vitals functions in all organs and tissues. For example, lungs: cystic fibrosis (also known as mucoviscidosis); muscles: Duchenne muscular dystrophy; skin: scleroderma, Goltz syndrome; etc. Around 30% of cancers are of rare form and also fall into this category.

Why is it important to act?

Although 5 people in 10,000 may seem a small rate, looking at the big picture, it is estimated that today in the EU countries, almost 8,000 (The Orphanet database is a source of information on which is based what is currently known about the situation of RD in the EU) distinct rare diseases affect between 27 and 36 million citizens. Because each disease is rare, few health professional are aware of them and even fewer dedicate themselves to support affected patients. In turn results are delayed diagnosis, lack of access to specialised social services and effective treatments. Often patients are faced to shortened life expectancy and low quality of life. Since the impact of these diseases includes also immediate families, an even more significant proportion of the total EU wide population carries such heavy burden.

Why is it important to act at the European level?

There is clear support for a coordinated and collaborative European effort to tackle rare diseases, both in terms of treatment, care and awareness building, with high levels of support for access to treatment in other Member States.

Besides, there is widespread support for policy initiatives aiming at increasing cooperation at European level, granting full access to care for patients in other Member States and introducing national strategies for rare diseases.

The European cooperation is not only beneficial for those patients, but also necessary. Pooling together the existing expertise and knowledge can improve diagnostic capacity and treatments. And increased number of diagnosed patients in the EU is the first step to support research and open the way for identifying possible treatments.

In a nutshell, working together at a European level can make the difference between marginalisation and proper care for millions of citizens across the EU.

What is the EU concretely doing?

Helping to pool scarce resources that are currently fragmented across individual EU countries. Joint action helps patients and professionals share expertise and information across borders. Specific measures include:

  • Improving recognition and visibility of rare diseases
  • Supporting national plans for rare diseases in EU member countries
  • Strengthening European-level cooperation and coordination Translations.
  • Creating European reference networks linking centres of expertise and professionals in different countries to share knowledge and identify where patients should go when expertise is unavailable in their home country
  • Encouraging more research into rare diseases.

Patient organisations are particularly important because they provide additional incentives for developing orphan drugs to combat rare diseases.

Cross border health care directive

Rules for receiving cross-border healthcare are not always clear or easy to understand. That is why the Commission proposed an EU Directive on the application of patients’ rights in cross-border healthcare, which was formally adopted by the European Parliament and the Council in 2011. It provides more clarity about possibilities to seek healthcare in another Member State.

The Directive also strengthens cooperation in different areas, among which rare diseases. Here the Commission will have to support member states in cooperating in the field of diagnosis and treatment capacity through the formal development and setup of European reference networks.

More information here.


Legal basis of EU policy