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Public Health (03-03-2008)

The 1st European Day on Rare Diseases was celebrated on 29 February … a very rare day.

The 1st European Day on Rare Diseases was celebrated on 29 February … a very rare day.
29 February, was chosen to celebrate the First European Awareness Day on Rare Diseases. This “rare” date was selected as an appropriate day to recognise the rare disease community in Europe. It was organised on the initiative of EURORDIS (the European Organisation on Rare Diseases) which brings together more than 310 rare disease associations in 34 different countries representing millions of patients.
The Commission is currently preparing a European Action Plan in the Field of Rare Diseases for the second semester 2008 after it will have completed its analysis of the results of a public consultation just terminated. This consultation recorded a very high level of participation.
To mark the Day the Commission launched a new version of the website Orphanet, the European information server on rare diseases and orphan drugs, a major information source contributing to the clinical identification and visibility of rare diseases. This project is a partnership with INSERM (the French national medical research agency) and the French Ministry of Health.
On 4 March, the European Parliament will also support the awareness raising effort in holding a public hearing on rare diseases at its premises in Brussels.
Rare diseases (RD) are life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity. Most of them are genetic diseases, the others being rare cancers, auto-immune diseases, congenital malformations, toxic and infectious diseases among other categories. They call for a global approach based on special and combined efforts to prevent significant morbidity or avoidable premature mortality, and to improve the quality of life or the socio-economic potential of affected persons. A disease is defined as rare when it affects less than 5 per 10 000 persons in the European Union. On the basis of present scientific knowledge, between 5 000 and 8 000 distinct RD affect up to 6% of the total EU population at one point in life. In other words, around 15 million people in the European Union (with 27 MS) are affected or will be affected by a Rare Disease.
The Orphanet website provides access to an encyclopaedia of rare diseases and orphan drugs and to a directory of services in 35 countries, including information on expert clinics, clinical expert laboratories, research activities and patients’ organisations. It is used health care professionals, researchers, associations and patients. The new release is enriched with information on the epidemiology of the diseases (prevalence in the European population, age at onset), on their mode of inheritance, and on related genes when applicable. Information on clinical laboratories has been complemented with data on the quality management of the laboratories, to promote an increased standard of quality across Europe. This information was collected and validated by the EuroGenTest consortium, a network of excellence funded by the European Commission (DG Research). The information on orphan drugs has been enriched to provide information on the stage of development of a product from the time of its designation as orphan product by the EMEA (European Medicines Agency) until its market authorisation in Europe. Orphan drug designation is usually granted at the beginning of the clinical development phase. As such, the Orphanet website provides access to the list of on-going clinical trials and to all orphan indications of a designated molecule; a service strongly requested by patients.
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