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"This book traces the development of genetics in medicine from the first descriptions of inherited diseases more than 300 years ago to the new applications resulting from mapping and sequencing the human genome. It follows both the scientific and the medical advances, focusing especially on those of the past 50 years, which have seen the field of medical genetics emerge as one of the foremost and most rapidly changing medical specialties, now influencing the whole of medicine. It also examines the ethical challenges faced by those working in the field, and describes some of the past disasters that have resulted from these being ignored, notably the abuses of eugenics and the catastrophic destruction of genetics in Soviet Russia. This is the first book of its kind; it is clearly and simply written, and will be valuable to all those who have an interest or concern in the development of medical genetics, as well as those actually working in the field. Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.
A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.
In the small “Fly Room†at Columbia University, T.H. Morgan and his students, A.H. Sturtevant, C.B. Bridges, and H.J. Muller, carried out the work that laid the foundations of modern, chromosomal genetics. The excitement of those times, when the whole field of genetics was being created, is captured in this book, written in 1965 by one of those present at the beginning. His account is one of the few authoritative, analytic works on the early history of genetics. This attractive reprint is accompanied by a website, http://www.esp.org/books/sturt/history/ offering full-text versions of the key papers discussed in the book, including the world's first genetic map.
This informative new book presents an accessible account of the development of medical genetics over the past 70 years, one of the most important areas of 20th, and now 21st, century science and medicine. Based largely on the author’s personal involvement and career as a leader in the field over the last half century, both in the UK and internationally, it draws on his interest and involvement in documenting the history of medical genetics. Underpinning the content is a unique series of 100 recorded interviews undertaken by the author with key older workers in the field, the majority British, providing invaluable information going back to the very beginnings of human and medical genetics. Focusing principally on medically relevant areas of genetics rather than the underlying basic science and technological aspects, the book offers a fascinating insight for those working and training in the field of clinical or laboratory aspects of medical genetics, genomics and allied areas; it will also be of interest to historians of science and medicine and to workers in the social sciences who are increasingly attracted by the social and ethical challenges posed by modern medical genetics and genomics.
Almost daily we hear news stories, advertisements, and scientific reports that promise genetic medicine will make us live longer, enable doctors to identify and treat diseases before they start, and individualize our medical care. But surprisingly, a century ago eugenicists were making the same promises. The Science of Human Perfection traces the history of the promises of medical genetics and of the medical dimension of eugenics. The book also considers social and ethical issues that cast troublesome shadows over these fields./divDIV DIVKeeping his focus on America, science historian Nathaniel Comfort introduces the community of scientists, physicians, and public health workers who have contributed to the development of medical genetics from the nineteenth century to today. He argues that medical genetics is closely related to eugenics, and indeed the two cannot be fully understood separately. He also carefully examines how the desire to relieve suffering and to improve ourselves genetically, though noble, may be subverted. History makes clear that as patients and consumers we must take ownership of genetic medicine, using it intelligently, knowledgeably, and skeptically, lest pernicious interests trump our own./div
Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.
A richly detailed history that “uncovers the challenges and limitations of our increasing reliance on genetic data in medical decision making” (Shobita Parthasarathy, author of Building Genetic Medicine). Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing expectant parents to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In this book, Andrew J. Hogan explores how various diseases were “made genetic” after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly “big data”–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies offer whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.
This is one of the few medical genetics texts on a 2-year revision cycle. It provides up-to-date information that can be read, retained, and applied with ease! The 3rd Edition covers pharmacogenomics, the societal implications of technologies, the Human Genome Project, cloning, genetic enhancement, and embryonic stem cell research, new tumor suppressor genes and oncogenes, and more. Mini-summaries, study questions, suggested readings, and a detailed glossary facilitate review of the material. Clinical relevance is demonstrated in over 230 photographs, illustrations, and tables as well as boxes containing patient/family vignettes. Its coverage includes ethical, legal, and social issues and clinical commentary on important genetic diseases. A companion web site offers continuing updates and a wealth of additional features. The smart way to study! Elsevier titles with STUDENT CONSULT will help you master difficult concepts and study more efficiently in print and online! Perform rapid searches. Integrate bonus content from other disciplines. Download text to your handheld device. And a lot more. Each STUDENT CONSULT title comes with full text online, a unique image library, case studies, USMLE style questions, and online note-taking to enhance your learning experience. Your purchase of this book entitles you to access www.studentconsult.com at no extra charge. This innovative web site offers you... Access to the complete text and illustrations of this book. Integration links to bonus content in other STUDENT CONSULT titles. Content clipping for your handheld. An interactive community center with a wealth of additional resources. The more STUDENT CONSULT titles you buy, the more resources you can access online! Look for the STUDENT CONSULT logo on your favorite Elsevier textbooks! Features mini-summaries that appear in bold throughout each chapter. Supplies study questions and suggested readings at the end of each chapter. Contains a detailed glossary at the end of the book. Offers Clinical Commentary boxes that present detailed coverage of the most important genetic diseases and provide examples of modern clinical management. Demonstrates clinical relevance with boxed patient/family vignettes and coverage of ethical, legal, and social issues. Provides visual reinforcement and easy access to key information with over 230 photographs, illustrations, and tables. Includes a companion website with continuing content updates, additional clinical images, and more!
The Practical Guide to The Genetic Family History Robin L. Bennett Compiling the most recent genetic developments in medical specialties, The Practical Guide to the Genetic Family History is a valuable resource which outlines the proper methods for taking and recording a patient's family medical history, allowing primary care physicians to be more efficient in diagnosing conditions with potential genetic components. With genetic screening forms, an overview of directed questions, pedigree nomenclature, and outlining common approaches used, genetic counselor Robin L. Bennett provides readers with the basic foundation in human genetics necessary to recognize inherited disorders and familial disease susceptibility in patients. As the only guide which is geared for the physician in this field, The Practical Guide to the Genetic Family History includes remarks by renowned medical geneticist Arno Motulsky, as well as information on structuring an accurate pedigree and its components, including: * Using a pedigree to identify individuals with an increased susceptibility to cancer * Family history, adoption, and their challenges * The connection between the pedigree and assisted reproductive technologies * Making referrals for genetic services * Neurological and neuromuscular conditions * Tables covering hearing loss, mental retardation, dementia, and seizures * Five case studies of genetics in practice An essential reference for genetics clinics, medical geneticists, and counselors, The Practical Guide to the Genetic Family History is also an invaluable aid for both primary care and specialist physicians who need an up-to-date reference that emphasizes both the science and art of modern clinical genetics.
"In the early 1800s, a century before there was any concept of the gene, physicians in insane asylums began to record causes of madness in their admission books. Almost from the beginning, they pointed to heredity as the most important of these causes. As doctors and state officials steadily lost faith in the capacity of asylum care to stem the terrible increase of insanity, they began emphasizing the need to curb the reproduction of the insane. They became obsessed with identifying weak or tainted families and anticipating the outcomes of their marriages. Genetics in the Madhouse is the untold story of how the collection and sorting of hereditary data in mental hospitals, schools for 'feebleminded' children, and prisons gave rise to a new science of human heredity. In this compelling book, Theodore Porter draws on untapped archival evidence from across Europe and North America to bring to light the hidden history behind modern genetics. He looks at the institutional use of pedigree charts, censuses of mental illness, medical-social surveys, and other data techniques--innovative quantitative practices that were worked out in the madhouse long before the manipulation of DNA became possible in the lab. Porter argues that asylum doctors developed many of the ideologies and methods of what would come to be known as eugenics, and deepens our appreciation of the moral issues at stake in data work conducted on the border of subjectivity and science. A bold rethinking of asylum work, Genetics in the Madhouse shows how heredity was a human science as well as a medical and biological one"--Jacket.