Abstract
Rare diseases (RD) are a clinically heterogeneous, predominantly inherited (or congenital) multisystem diseases with very low incidence in the general population that negatively affect the quality of life and social inclusion of affected patients and their families. The disease is defined as rare in the European Union if it affects less than 5 people out of every 10,000 citizens.
There are approx. 5,000 different RD, implying an estimated total number of patients in Europe of approx. 20 million. RD most often manifest themselves soon after birth and affect up to 2-5 % of children but may occur also later in childhood or even in adulthood.
About 80 % of RD have genetic pathogenesis, but most of them remain unrecognized or their causal gene remains unknown. In this summary article we describe the current state of diagnosis and treatment of RD in the Czech Republic and at the European level.
In addition, we will present the current issue of the development of international classification of diseases, the creation of domestic and international databases, the development of European and domestic recommendations, the implementation of a national strategy and three action plans for VO, the application of cross-border care, including the creation of European Reference Networks for these diseases and their impact on national legislation in terms of creation of highly specialized centers for RD in the country. The overall aim of this review is to not only map the state of art but also outline likely future developments in this rapidly developing field of modern medicine.