Fragile X Syndrome: From Genetics to Targeted Treatment - Couverture rigide

Couverture rigide

ISBN 10 : 0128044616 ISBN 13 : 9780128044612

Editeur : Academic Press Inc, 2017

Synopsis

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)

A propos du livre

À propos des auteurs

Dr. Willemsen is a Professor for Functional Neurogenetics in the Department of Clinical Genetics at Erasmus University Medical Center in Rotterdam, the Netherlands. He is a leader in the development and characterization of genetic animal models for FXS (mouse and zebrafish). His research group has been involved in the understanding of the molecular basis of FXS and currently his group is focused on experimental approaches towards therapeutic intervention for FXS. The first avenue of research has resulted in several knockout mice for the Fmr1 gene, including conditional knockout, that are now used worldwide as the standard in (pre-clinical and fundamental research) studies for FXS.

Dr. Frank Kooy is Professor in Cognitive Genetics at Department of Medical Genetics of the University of Antwerp. His research successfully focusses on the identification of genetic causes of cognitive disorders, such as intellectual disability and autism and to study the defective genes with the ultimate goal of developing rational therapies. He has been involved in research on multiple aspects of the Fragile X Syndrome research for two decades.

Détails de l'édition

• Éditeur: Academic Press Inc
• Date d'édition: 2017
• Langue: anglais
• ISBN 10: 0128044616
• ISBN 13: 9780128044612
• Reliure: Relié
• Nombre de pages: 498
• Éditeur: Willemsen Rob, Kooy Frank
• Coordonnées du fabricant: non disponible
• Personne responsable: Yeepin GmbH; 492000000000; sunshine12232@outlook.com; ; Alleestr.11; Kaiserslautern; Rheinland-Pfalz; 67655; Allemagne