Fragile X Syndrome From Genetics to Targeted Treatment
Coordonnateurs : Willemsen Rob, Kooy Frank
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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)
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
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.
- 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
Date de parution : 05-2017
Ouvrage de 498 p.
19x23.4 cm
Thèmes de Fragile X Syndrome :
Mots-clés :
2-AG; 5-aza-2-deoxycytidine; AGG interruption; ampakines; anandamide; animal model; arbaclofen; autistic spectrum disorder; basimglurant; biomarker; brain-behavior; calcium; cation; CB1 receptor; CGG repeat; CGG trinucleotide; channels; chromatin remodeling; cognitive; communication; cortactin; data discussion; dendritic spine; DGLα; disease modeling; DNA methylation; drug discovery; drug treatments; early treatment; efficacy; eIF4E; embryonic stem cells; endocannabinoids; epigenetic modifications; ERK; ERK1/2; expansion and contraction mechanisms; extracellular; family; FMR1; FMR1 gene; FMR1 gene function; Fmr1 KO; FMR1-deficiency; FMRP; FMRP targets; fragile X; fragile X mental retardation protein; fragile X research; fragile X syndrome (FXS); FRAXA; FRAXA site; future clinical trials; FXPOI; FXS; FXTAS; GABA; GABA antagonists; GABA neurons; GABAB; gene regulation; genetic counseling; genetic oddities; glycogen synthase kinase-3; GSK3; HCN; HDAC inhibitors; histone acetylation; histone methylation; homeostasis; homer; human pluripotent stem cells; implications; incidence; information; inhibitory tone; intellectual disability; JZL184; language; lithium; long-term depression; long-term efforts; long-term potentiation; MAGL; Martin-Bell syndrome; matrix; mavoglurant; metabotropic glutamate receptor 5; metalloproteinases; methylation; mGlu5; mGlu5 receptor; mGluR theory; mGluR-NAMs; mGluR5; minocycline; missing voice; modelling human disease; mophology