Fragile X Syndrome

From Genetics to Targeted Treatment

Rob Willemsen, Frank Kooy, Rob Willemsen, Frank Kooy

• Éditeur: Academic Press
• Année: 2017
• ISBN:
  9780128045077
• Sujet: Médecine
• Sous-sujet: Neurologie

Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology.

It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is written for academic researchers, pharmaceutical investigators, and clinicians in the field who work on the disorder, and for researchers involved in clinical trials of the fragile X syndrome or related disorders.

"This fascinating book, edited by Rob Willemsen and Frank Kooy, summarizes the current knowledge of the molecular aspects of fragile X syndrome (FXS), andthe potential for therapies resulting from this knowledge...Particularly interesting is a review "fragile X research from a parental perspective, " which summarizes the results of an international survey of the attitudes of families with FXS relatives towards research…This book is also an essential reference book for genetic counselors...The book provides counselors with the necessary biological background for proper explanations to the relatives of FXS patients. Many parents acquire a substantial knowledge of the conditions afflicting their children. The book will be helpful for both families and counselors to manage the expectations of families participating in clinical trials…In conclusion, this book is essential for everyone who is involved in the diagnosis and treatment of FXS patients." - European Journal of Human Genetics (September 2018)

• Provides a comprehensive overview of the molecular genetics, clinical trials, and treatment of Fragile X Syndrome
• Written for academic researchers, pharmaceutical investigators, and clinicians in the field
• Edited by international leaders in the field who have contributed greatly to the study of Fragile X Syndrome
• Directs the reader through complex issues surrounding FXS and draws the literature together for researchers and clinicians