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This book presents comprehensive coverage of the RASopathies, one of the largest known recognizable patterns of malformation syndromes, affecting approximately 1 in 1,000 people. These syndromes include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation-arteriovenous malformation syndrome, SYNGAP1 syndrome and central conducting lymphatic anomalies. Noted physician and authority Katherine Rauen and an assembly of the top international experts present detailed discussions of both the science and clinical implications of these fascinating disorders. The major topics covered in this book include the syndromes and genes, the RAS pathway, phenotypic features, animal modeling and treatments. The book will appeal to a wide audience, including clinicians and basic scientists alike such as medical geneticists, genetics counsellors, oncologists, neurologists, cardiologists, dermatologists, behavioralists, orthopedists, ophthalmologists, neuroscientists, RAS biologists, and signal transductionists. This book is also intended for advocate leaders, trainees, and families with RASopathies.
Dr. Katherine A. (Kate) Rauen is a physician-scientist and Professor Emeritus in the Department of Pediatrics, Division of Genomic Medicine at the University of California Davis. She received a Master of Science in Human Physiology and a PhD in Genetics from UC Davis doing research on gene dosage compensation and genetic evolution. She obtained her Medical Degree at the University of California Irvine where she also did research in cancer genetics. Dr. Rauen did her residency training in Pediatrics and fellowship training in Medical Genetics at the University of California San Francisco. Dr. Rauen is internationally known for her pioneering work in the early application of microarray technology in clinical genetics and as a leader and major contributor to the understanding of RASopathies, genetics syndromes of the RAS/MAPK pathway. Her research program involves the clinical and basic science study of cancer syndromes with effort to identify underlying genetic abnormalities affecting common developmental and cancer pathways.
Preface.- What is a RASopathy.- Neuro?bromatosis Type 1.- Legius Syndrome.- Noonan Syndrome.- Noonan Syndrome with Multiple Lentigines.- Costello Syndrome.- Cardio-facio-cutaneous Syndrome.- Capillary Malformation - Arteriovenous Malformation Syndrome.- SYNGAP1 - The Gene and Syndrome.- Central Conducting Lymphatic Anomalies.- Defining Pathogenic Variants in RASopathies.- Molecular Genetics of Noonan Syndrome and other RASopathies.- Comprehensive Care for Patients with RASopathies.- Precision Medicine in RASopathies: Tailored Disease Management through Enhanced Approaches, Disease Delineation, and Pathway-Specific Therapies.- Genetic Counseling and the RASopathies.- The Importance of Advocacy in the RASopathies.- The RAS Signaling Network and Cancer.- The RAS-regulated RAF-MEK1/2-ERK1/2 Protein Kinase Pathway - the path most travelled in RASopathies.- The non-canonical RAS/MAPK pathway and the RASopathies.- Understanding the Ras in RASopathies.- RAS Family Interactions: The SHOC2-MRAS-PP1 complex in Noonan syndrome.- RASopathy Genes: Germline Risk and Somatic Cancers.- Cancer in Neurofibromatosis type 1.- Prenatal Manifestations of the RASopathies.- Cardiovascular Disease in the RASopathies.- Cognitive Development and Learning in RASopathies.- Behavioral Profile in RASopathies.- Autism and Social Behavior in RASopathies.- Epilepsy in RASopathies.- Speech-Language Pathology in the RASopathies.- Ophthalmic Manifestations in RASopathies.- Dermatological Associations in the RASopathies.- Mosaic RASopathies.- Craniofacial and Dental Development in the RASopathies.- Skeletal Muscle Development in the RASopathies.- Orthopedic Issues of the RASopathies.- Drosophila models of RASopathies.- Neurofibromatosis Type 1 Mouse Models.- Neurofibromatosis type I: Preclinical Modeling.- Modeling the non-NF1 RASopathies.- Clinical Studies and Small Molecule Inhibitors for RASopathy Treatment.- Index.
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