Fragile X Syndrome

From Genetics to Targeted Treatment
Herausgegeben:Willemsen, Rob; Kooy, Frank

• Gebundenes Buch

Produktbeschreibung

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 FrankKooy, 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)

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Produktdetails

• Verlag: Academic Press / Elsevier Science & Technology
• Artikelnr. des Verlages: C2015-0-01930-X
• Seitenzahl: 498
• Erscheinungstermin: 26. Mai 2017
• Englisch
• Abmessung: 241mm x 195mm x 32mm
• Gewicht: 1180g
• ISBN-13: 9780128044612
• ISBN-10: 0128044616
• Artikelnr.: 47482030

Autorenporträt

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.

Inhaltsangabe

Clinics, diagnosis, epidemiology, molecular mechanisms and models 1. The Clinical Phenotype of the Fragile X Syndrome and Related Disorders 2. Fragile X Syndrome Genetics 3. Molecular Diagnostics and Genetic Counseling in Fragile X syndrome and FMR1 associated disorders 4. Epidemiology of Fragile X Syndrome 5. Mechanisms of repeat instability in Fragile X Syndrome 6. Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells 7. Animal models - drosophila, mouse, rat and zebrafish

Pathways Involved 8. RNA and protein targets of FMRP 9. The mGluR Theory of Fragile X from Mice to Men 10. The GABAergic System contributions to the Fragile X Syndrome Phenotype 11. Intracellular Signaling Networks in Fragile X Syndrome: Approaches to Drug Discovery and Therapeutics 12. The Endocannabinoid System in Fragile X Syndrome 13. Glycogen synthase kinase-3: Abnormalities and therapeutic potential in Fragile X syndrome 14. Defects in Rho GTPase signaling to the spine actin cytoskeleton in FMR1 knockout mice 15. Matrix Metalloproteinases in Fragile X Syndrome 16. Ion channel dysfunction and FXS 17. Reactivation of FMR1 gene

Clinical trials 18. Drug discovery for targeted pharmacotherapy of Fragile X Syndrome 19. Overview of targeted double blind, placebo controlled clinical trials in Fragile X Syndrome 20. Reflections on Clinical trials in Fragile X syndrome 21. Toward better outcome measures in clinical trials 22. Fragile X Research from a Parental Perspective