Vzácná onemocnění – Kopečková Kateřina (2025)

Ten years ago, the first domestic monograph addressing the issue of rare diseases was published. Since then, not only has awareness of this group of very different illnesses significantly increased, affecting up to one million residents in the Czech Republic, but there has also been a significant shift in the possibilities for diagnosis and the effectiveness of treatment for some diseases. A significant development has also occurred in the organization of care for these patients. The establishment of European Reference Networks for Rare Diseases connecting expert centers across the EU is a fundamental breakthrough leading to improved care for patients with these rare diagnoses. Czech centers across the country are involved in 17 European networks and collaborate with leading European experts. The aim of the book is to provide information about the developments that have fundamentally influenced the diagnosis and treatment of selected rare diseases. Patient organizations have also undergone transformation, significantly contributing to shaping policy in the area of rare diseases, both at the Czech and European levels. Unique in the European context is the role of patients in the Czech regulatory process for drugs for rare diseases. However, several critical points in the area of rare diseases arise for the future.