For the period 2008-2013 the Commission has adopted the White Paper COM(2007) 630 final "Together for Health: A Strategic Approach for the EU 2008-2013" of 23 October 2007 developing the EU Health Strategy and the Decision No 1350/2007/EC of the European Parliament and of the Council of 23 October 2007 establishing a second programme of Community action in the field of health (2008-2013). Initiatives in order to prevent and treat specific diseases, including genetic disorders, and to promote action on the prevention of rare diseases are explicitly mentioned.

What are rare diseases?

Rare diseases, including those of genetic origin, are life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them so as to prevent significant morbidity or perinatal or early mortality or a considerable reduction in an individual's quality of life or socio-economic potential.

As a guide, low prevalence is taken as prevalence of less than 5 per 10 000 persons in the European Union.

While this number seems small, it translates into approximately 246 000 persons in the EU with 27 Member States. Most of the people represented by these statistics suffer from less frequently-occurring diseases affecting one in 100 000 people or less.

It is estimated that between 5 000 and 8 000 distinct rare diseases exist today, affecting between 6% and 8% of the population in total - in other words, between 27 and 36 million people in the European Union.

The United States definition is very similar to the European one. In the US an orphan or rare disease is generally considered to have a prevalence of fewer than 200 000 affected individuals. Certain diseases with 200 000 or more affected individuals may qualify if subpopulations of these conditions are equal to the prevalence standard for rare diseases.

Why do rare diseases need specific EU support?

The very rarity of low-prevalence diseases and conditions and the lack of information, research, diagnosis, treatment and expert availability may mean that the people affected do not benefit from the health resources and services they need. Rare diseases are considered to have little impact on society as a whole, as the prevalence of each disease is low. Yet they pose serious difficulties for sufferers and their families.

The focus on rare diseases is a relatively new phenomenon in Europe. Until recently, public health authorities and policy makers largely ignored them. The reasons why rare diseases in general have been so long ignored are better understood today.

Clearly, it is impossible to develop a public health policy specific to each rare disease. But a global rather than a piecemeal approach could provide some solutions. A global approach to rare diseases means that individual diseases do not fall through the net and real public health policies can be established in the areas of scientific and biomedical research, drug research and development, industry policy, information and training, social benefits, hospitalisation and outpatient treatment.

What are the objectives and issues according to DG SANCO [The Health &  Consumers Directorate-General]?

The Community action programme on rare diseases , including genetic diseases, was adopted for the period 1 January 1999 to 31 December 2003. The aim of the programme was to contribute, in co-ordination with other Community measures, to ensure a high level of health protection in relation to rare diseases. As a first EU effort in this area, specific attention was given to improving knowledge and facilitating access to information about these diseases.

Rare diseases are now one of the priorities in the second programme of Community action in the field of health (2008-13) . According to the DG SANCO Work Plans for the implementation of the Public Health Programme, the two main lines of action are the exchange of information via existing European information networks on rare diseases, and the development of strategies and mechanisms for information exchange and co-ordination at EU level to encourage continuity of work and trans-national co-operation.

Furthermore, regarding rare diseases projects, DG SANCO prioritises generalist networks, which centralise information on as many rare diseases as possible - not just a specific group or a single disease - to improve information, monitoring and surveillance.

The European Commission adopted the 11 November 2008 the Commission Communication COMM(2008) 679 final to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases: Europe's challenges setting out an overall Community strategy to support Member States in diagnosing, treating and caring for the 36 million EU citizens with rare diseases. The limited number of patients affected and the fragmentation of knowledge about them across the European Union makes rare diseases a prime example of where working at European level is necessary and beneficial. The Communication sets out a Community strategy for action in three main areas: (i) improving recognition and visibility of rare diseases; (ii) supporting national plans for rare diseases in the Member States; and, (iii) Strengthening cooperation and coordination for rare diseases at European level.

The Council adopted the 9th June 2009 the Council Recommendation on a action in the field of rare diseases. The Recommendation concentrates on supporting and strengthening the adoption before 2013 of national plans and strategies for responding to rare diseases, on improving recognition and visibility of rare diseases, on encouraging more research into rare diseases and forging links between centres of expertise and professionals in different countries through the creation of European reference networks in order to share knowledge and expertise and, where necessary, to identify where patients should go when such expertise cannot be made available to them. The role of patient's organisations is also highlighted as particularly important.

European cooperation will help to bring together the scarce resources for rare diseases that are currently fragmented across individual countries in the EU. European action will help patients and professionals to collaborate across Member States in order to share and coordinate expertise and information. This will be achieved through for example, networks linking centres of expertise in different countries, and by making use of new information and communication technologies ("E-Health"). The Commission will build on successful existing actions, such as the previous health programme on rare diseases, the Research and Technological Development Framework Programmes, and the specific regulatory framework already in place to provide additional incentives for the development of 'orphan' drugs for these conditions.

For more details on how to interpret the concept of 'rarity', see Rare Diseases: understanding this Public Health Priority .

Browse the Theme

Commission Communication and Council Recommendation on rare diseases
Identifying rare diseases
Estimated prevalence of some rare diseases
EU Projects supporting cooperation between rare diseases organisations
EU Projects creating networks of action for rare diseases
National Plans or Strategies for Rare Diseases
European Conference on Rare Diseases 2010
European Conference on Rare Diseases 2007
International Conferences on Rare Diseases and Orphan Drugs
European Union Committee of Experts on Rare Diseases
Orphan drugs strategy
EU activities on rare diseases: rare diseases therapy research and human tissue engineered products
European networks of reference for rare diseases
Public health national initiatives or other institutions responsible for rare diseases