Clinical Obesity Genetics
Springer International Publishing (Verlag)
978-3-032-04094-7 (ISBN)
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This book provides a concise and practical overview of clinical obesity genetics for both clinicians and scientists in need of a single resource on the topic. Clinical genetic obesity disorders, genetic analysis, clinical treatment, and future directions are discussed in detail, with new insights and approaches to personalized medicine highlighted throughout the book.
Clinical Obesity Genetics examines genetic aspects versus personalized treatment as well as rare cases in genetic obesity. This book is an essential guide for all clinicians dealing with queries from patients with obesity and scientists involved with obesity research in both adults and children.
Prof. Mieke van Haelst is Head of Clinical Genetics at the Department of Human Genetics, Amsterdam University Medical Centers. After her specialist training at Erasmus MC, Rotterdam and Great Ormond Street Hospital, London, she worked as a clinical geneticist in London and Utrecht. Her translational research focusses on the identification of (novel) gene defects and unravelling the pathogenicity obesity-related disorders. As co-director of Emma Center for Personalized Medicine at Amsterdam UMC, she works on the identification and understanding of causal (epi)genetic factors that result in rare diseases. She integrates knowledge and methods of diverse disciplines to accelerate the development of personal treatment for rare genetic disorders. She has established genetic clinics, research, and education programs at the pediatric departments in the Dutch Caribbean and aims to provide equal genetic care for diverse populations. Together with co-editor Erica van den Akker, she established the Dutch national center of expertise for genetic obesity disorders.
Prof. Erica van den Akker is Head of Pediatric Endocrinology at the Department of Pediatrics Erasmus MC-Sophia Children s Hospital, Rotterdam, the Netherlands. She is Lecturer at the Faculty of Medicine, Erasmus University and Cofounder of the Obesity Clinic CGG, which is an European Association Studies of Obesity Center of Management (EASO-COM) and a Dutch national center of expertise in diagnosis and treatment of children and adolescents with genetic obesity. Dr. van den Akker's research focuses on clinical and translational projects in the diagnostics and treatment of (genetic) obesity. She is member of the European Society of Pediatric Endocrinology clinical practice committee, the RareEndo European Reference Network main thematic group on growth and obesity.
Part 1: Introduction.- General introduction to obesity genetics and genomics.- General introduction obesity in children and adults.- Part 2: Clinical disorders.- Prader-Willi syndrome.- Chung-Jansen syndrome (PHIP-related disorder).- 16p11.2 16p11.2 deletion syndrome.- Schaaf-Yang syndrome (MAGEL2).- Bardet-Biedl syndrome.- Pseudohypoparathyroidism and its association with obesity.- Non-syndromic Leptin melanocortin pathway disorders.- Leptin and Leptin receptor deficiency.- POMC deficiency.- MC4R deficiency.- Part 3: Genetic analysis?- PCSK1 deficiency.- Methylation analysis in diagnostics; the episignature.- Part 4: Clinical treatment.- Anti-obesity pharmacotherapy for patients with genetic obesity disorders.- Metabolic Bariatric surgery.- Part 5: Future directions.- Circadian clock genes.- Functional assessment of G-protein coupled receptor variants associated with genetic obesity.- DNA medication pass: If genomics data is available, why not look at pharmacogenetic variants too?.- Genome-wide association studies and poligenic risk prediction in obesity research.
| Erscheinungsdatum | 29.11.2025 |
|---|---|
| Zusatzinfo | XI, 246 p. 47 illus., 42 illus. in color. |
| Verlagsort | Cham |
| Sprache | englisch |
| Maße | 155 x 235 mm |
| Themenwelt | Medizinische Fachgebiete ► Innere Medizin ► Endokrinologie |
| Medizin / Pharmazie ► Medizinische Fachgebiete ► Pädiatrie | |
| Schlagworte | adults • children • Leptin-melanocortin Pathway Defects • polygenic risk score • Prader Willi syndrome • Rare Genetic Obesity Syndromes • Syndromal |
| ISBN-10 | 3-032-04094-9 / 3032040949 |
| ISBN-13 | 978-3-032-04094-7 / 9783032040947 |
| Zustand | Neuware |
| Informationen gemäß Produktsicherheitsverordnung (GPSR) | |
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