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. As a guide, low prevalence is taken as prevalence of less than 5 per 10,000 in the Community.
In EU countries, any disease affecting fewer than 5 people in 10 000 is considered rare. This number may seem small but it translates into approximately 246.000 people throughout the EU’s 27 member states.
The EU, though legislative acts and communications, is helping to pool scarce resources that are currently fragmented across individual EU countries to improve the recognition and visibility of rare diseases and ensure that rare diseases are adequately coded and traceable in all health information systems. It is estimated that today in the EU, 5-8000 distinct rare diseases affect 6-8% of the population – between 27 and 36 million people.
Furthermore, the EU supports national plans for rare diseases in EU member states in order to strengthen the European-level cooperation and coordination. Moreover it creates 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. Lastly it encourages more research into rare diseases and evaluates current screening population practices.
Indeed the EC Communication on Action in the field of Rare Diseases (2009/C 151/02) aims to produce, develop and implement national plans on rare diseases by the end of 2013. These plans aim to improve the lives of patients affected by rare diseases and those of their families.