Hereditary Basis Of Disease
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| Author | : Jeanette J. McCarthy |
| Publisher | : McGraw Hill Professional |
| Total Pages | : 230 |
| Release | : 2017-01-05 |
| Genre | : Medical |
| ISBN | : 1259644146 |
Incorporate genomics into every applicable area of your clinical practice with this complete how-to guide Doody's Core Titles for 2021! Precision Medicine: A Guide to Genomics in Clinical Practice is a comprehensive, yet succinct overview of the practice of genomic medicine. It is written for general healthcare practitioners, specialists, and trainees with the goal of providing detailed guidance on how to incorporate genomic medicine into daily practice. Features that make this book valuable to every practice: Intentionally avoids excessive technical content and consistently emphasizes real-life patient care and decision support Follows the course of a human life, beginning before conception through pregnancy, childhood, and adulthood, discussing the current and future applications of genomics and precision medicine at each stage Organization allows healthcare providers to quickly and easily find the information relevant to their practice. The authors highlight common pitfalls – technical and ethical – that might complicate the delivery of quality genomic healthcare Enhanced by eleven valuable appendices that cover important topics ranging from the basics of genetics to ethical issues to regulation and reimbursement If you are searching for a clinically relevant, non-technical resource that will teach you how genomic medicine can and should be practiced in your specific field of interest, Precision Medicine: A Guide to Genomics in Clinical Practice belongs on your desk.
| Author | : Stanley Fields |
| Publisher | : MIT Press |
| Total Pages | : 235 |
| Release | : 2010-09-24 |
| Genre | : Science |
| ISBN | : 0262289008 |
How tiny variations in our personal DNA can determine how we look, how we behave, how we get sick, and how we get well. News stories report almost daily on the remarkable progress scientists are making in unraveling the genetic basis of disease and behavior. Meanwhile, new technologies are rapidly reducing the cost of reading someone's personal DNA (all six billion letters of it). Within the next ten years, hospitals may present parents with their newborn's complete DNA code along with her footprints and APGAR score. In Genetic Twists of Fate, distinguished geneticists Stanley Fields and Mark Johnston help us make sense of the genetic revolution that is upon us. Fields and Johnston tell real life stories that hinge on the inheritance of one tiny change rather than another in an individual's DNA: a mother wrongly accused of poisoning her young son when the true killer was a genetic disorder; the screen siren who could no longer remember her lines because of Alzheimer's disease; and the president who was treated with rat poison to prevent another heart attack. In an engaging and accessible style, Fields and Johnston explain what our personal DNA code is, how a few differences in its long list of DNA letters makes each of us unique, and how that code influences our appearance, our behavior, and our risk for such common diseases as diabetes or cancer.
| Author | : David Malkin |
| Publisher | : Springer |
| Total Pages | : 491 |
| Release | : 2021-09-07 |
| Genre | : Medical |
| ISBN | : 9783030744465 |
This volume elaborates on the research and clinical implications of the hereditary and molecular basis of childhood cancers. The focus of the ‘disease-related’ chapters of the book is to integrate what is known about the molecular basis of that particular clinical entity (or group of related entities) with the clinical manifestations, to relate the relationship of the molecular oncologic pathways with relevant developmental or non-human species biology in order to better understand the complexity of these systems. The resulting clinical implications of understanding this biology are elaborated on. Chapters 13-16 discuss the broader psychosocial, ethical and genetic counseling issues that arise and that are so critical to translating the knowledge gained from advances in molecular genetics into the clinic. Chapter 12 in particular provides a unique perspective of the application of this knowledge in less-developed nations where ‘modern’ technologies may not be readily available, but where the clinical manifestations of these disorders are prevalent.
| Author | : May Sherman |
| Publisher | : |
| Total Pages | : 364 |
| Release | : 1968 |
| Genre | : Genetic disorders |
| ISBN | : |
| Author | : Claude Gaultier |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 338 |
| Release | : 2007-10-23 |
| Genre | : Science |
| ISBN | : 0387707654 |
Bringing together top-level contributions on all aspects of the subject, this book provides an overview of the recent advances in the genetics of respiratory control in health and disease. It also shows how combined studies in humans and mouse models have helped to improve our understanding of the mechanisms that underlie genetically determined respiratory control disorders with the goal of developing new therapeutic interventions.
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 353 |
| Release | : 1994-01-01 |
| Genre | : Medical |
| ISBN | : 0309047986 |
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
| Author | : Rajesh V. Thakker |
| Publisher | : Academic Press |
| Total Pages | : 880 |
| Release | : 2017-10-31 |
| Genre | : Science |
| ISBN | : 0128041986 |
Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. - Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments - Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders - Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder
| Author | : Richard P. Lifton |
| Publisher | : Academic Press |
| Total Pages | : 895 |
| Release | : 2009-02-25 |
| Genre | : Science |
| ISBN | : 0080924271 |
Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. Genetic Diseases of the Kidney offers expert insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease. Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic "disturbance to the systemic appearance of disease. - Lays the essential foundation of mammalian genetics principles for medical professionals with little or no background in genetics - Analyzes specific renal diseases – both monogenic disorders confined to the kidney and systemic diseases with renal involvement – and explains their genetic causes - World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)
| Author | : Stephen T. Holgate |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 204 |
| Release | : 2002-07-01 |
| Genre | : Medical |
| ISBN | : 9783764364021 |
Allergic diseases are complex and involve a range of environmental factors interacting with a susceptible genotype. The familial clustering of diseases, such as asthma and hay fever, has been recognised for over two centuries, but identification of the genetic basis to this had to await the molecular biological revolution. Estimates of the contribution that genetic factors make to asthma susceptibility range from 35% to 70%. For the majority of allergic diseases, segregation analysis has not identified a consistent Mendelian pattern of inheritance, which, when combined with multiple phenotypes and environmental interactions, has made identifying candidate genes especially difficult and, at times, controversial. Part of the difficulty has been lack of agreement over phenotype definitions, reduced power of studies to predict linkage and association, and, importantly, lack of true heterogeneity between populations. Despite these difficulties, the last decade has witnessed enormous progress in this field.
| Author | : Alexandre Rezende Vieira |
| Publisher | : Springer |
| Total Pages | : 0 |
| Release | : 2019-12-13 |
| Genre | : Medical |
| ISBN | : 9783030144845 |
This book explains the genetic basis of a wide range of dental disorders, including dental caries, periodontitis, congenital anomalies, malocclusions, orofacial pain, dental implant failure, and cancer. Such conditions are typically multifactorial or complex, with involvement of more than one gene as well as environmental influences. A sound grasp of this framework is ever more important, given the emergence of consumer genomics, including direct-to-consumer genetic testing. Dental professionals now need to understand why one person is susceptible to a particular oral health condition while a first-degree relative either does not develop the condition or does so in a less severe form. Knowledge of how genes operate in the susceptible host is essential if patients are to be offered accurate advice about their risks. The information provided in this book will assist in the delivery of effective personalized dental care through optimization of preventive strategies. It will enable the practitioner to explain the extent to which a patient’s condition is pure "bad luck", whether that bad luck can be changed by behavioral choices, and how many of our behaviors are influenced by genes.
