Why has the Commission made tackling rare diseases a health priority at EU level?
The specificities of rare diseases – limited number of patients and scarcity and fragmentation of relevant knowledge and expertise – single them out as a distinctive area of very high European added-value. The need to pool together the still limited resources can therefore best be tackled and coordinated at EU level. Furthermore, rare diseases remain largely invisible in healthcare information systems due to lack of appropriate coding and classification systems, which in turn imposes medical and financial barriers on receiving treatment. Misdiagnosis and non-diagnosis (often for as long as five years) are the main barriers faced by patients in the EU. Additionally, the current EU legislative framework needs to be better adapted to rare diseases, for example by making provision for the establishment of reference networks. What has been done so far at EU level to address rare diseases? Rare diseases were highlighted as priorities in the Community Action Programme on rare diseases (1999-2
