Overview

Rare childhood diseases affect millions of families worldwide - yet they often remain invisible in everyday medical practice, research, and public perception. This book is dedicated to precisely these diseases: those diagnoses that are rare individually but collectively represent one of the greatest challenges facing modern medicine. Well-founded, differentiated, and at the same time understandable, the work guides the reader through the biological, genetic, and clinical basics of rare diseases in childhood. It highlights diagnostic hurdles, structural care problems, and current therapeutic developments - from gene therapies and molecular repair approaches to personalized treatment strategies. It not only conveys medical facts, but also includes ethical, psychosocial, and health policy dimensions. A special focus is placed on the perspective of those affected and their families: on the often years-long search for a diagnosis, on the challenges of a fragmented healthcare system, and on the importance of specialized centers, interdisciplinary networks, and international cooperation. This book is aimed at medical professionals, researchers, students, and anyone who wants to learn more about rare childhood diseases. It is intended to serve as a bridge between science and practice-and as a plea for a healthcare system that also does justice to those whose diseases are rare but no less relevant. Bremen University Press has published over 5,500 specialist books since 2005. January 2026

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9783691736908

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