Rare diseases

Ten years ago, the first domestic monograph on the subject of rare diseases was published. Since then, not only has awareness of this group of very diverse diseases, which affect up to one million people in the Czech Republic, increased significantly, but there has also been a significant shift in the possibilities for diagnosis and the effectiveness of treatment for some diseases. Significant developments have also taken place in the organisation of care for these patients. The establishment of the European Reference Networks for rare diseases, connecting expert centres across the EU, is a fundamental breakthrough leading to improved care for patients with these rare diagnoses. Czech centres across the republic are involved in 17 European networks and cooperate with leading European experts.
The aim of the book is to provide information on the developments that have fundamentally influenced the diagnosis and treatment of selected rare diseases. Patient organisations have also undergone a transformation, and they are now significantly involved in shaping rare disease policy, both at the Czech and European levels. The role of patients in the Czech regulatory process for medicines for rare diseases is entirely unique in the European context. However, a number of critical issues in the field of rare diseases remain for the future. From the possibilities of treating rare diseases outside the Czech Republic, through questions of the availability of expensive therapies and their financing, to ethical questions concerning both treatment and diagnosis. A significant player in the field of rare diseases is the pharmaceutical industry and its interaction with the academic community and the needs of patients, without which the development of medicines for rare diseases would not be possible.
This publication should facilitate a basic orientation in this subject matter for specialists in various fields as well as for first-contact doctors.