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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 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.
Table des matières
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.
A propos de l'auteur
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 personalized 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.
Erica van den Akker is professor of pediatric endocrinology, and head of the division of Pediatric Endocrinology at Erasmus University Medical Center Sophia Children’s Hospital, lecturer at the Faculty of Medicine, Erasmus University, Rotterdam, The Netherlands. She is co-founder of Obesity Clinic CGG, which is an accredited EASO Center of Management for diagnosis and treatment of children and adults with obesity and an NFU accredited center of expertise for genetic obesity. The center is national referral center for patients with genetic obesity. Van den Akker is chair of the project group for the global guideline on endocrine aspects of diagnostics and treatment of obesity in children and adolescents. She is coordinator of the ESPE working group on obesity and member of the steering committee main thematic group Growth and Obesity of the European Reference Network EndoERN and Erasmus MC Health Care Provider (HPC) representative for EndoERN.
Résumé
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 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.
