Medical Genetics and Rare Diseases
Public lectures, talks are in Czech
Rare disease means diseases that occur in the population with a frequency of less than 1 per 2,000 inhabitants. The Ministry of Health established an interdisciplinary and interdepartmental committee for rare diseases bringing together experts, representatives of patients, and health insurance companies in 2009. The aim of the work of this committee is to coordinate the creation of specialized interdisciplinary centres that provide comprehensive specialized care for patients with rare diseases. The main coordination centre is based at the FN Motol, Prague. The University Hospital, Brno cooperates very closely with this centre.
Rare diseases are complex, largely genetic (or inherited) diseases with a low incidence in the population that have an impact on the quality of life and social inclusion of the patient, or threaten their life. Often these are diseases for which there is insufficient information in both the medical community and among laypeople. On the other hand, there are several thousand individual diagnoses of severe diseases; progressive, usually significantly shortens life expectancy and last but not least, significantly affecting the quality of the life of patients and their families. Although each disease is rare, as a whole, causing up to 8% of morbidity and mortality in the European Union. The care of a patient with a rare disease usually requires broad interdisciplinary care of specialists educated in the matter. Understanding of this complex area of medicine is not easy for medical staff and it is difficult for the public to understand this issue.
Clinical geneticists and molecular biologists have a rare opportunity to participate in interdisciplinary cooperation, are members of many teams whose aim is to improve the quality of the life of patients suffering from rare diseases and may contribute to the emergence of these teams.