This very readable overview of the rise and transformations of medical genetics and of the eugenic impulses that have been inspired by the emerging understanding of the genetic basis of many diseases and disabilities is based on a popular nonmajors course, "Social Implications of Genetics," that Gillham gave for many years at Duke University. The book is suitable for use as a text in similar overview courses about genes and social issues or genes and disease. It gives a good overview of the developments and status of this field for a wide range of biomedical researchers, physicians, and students, especially those interested in the prospects for the new, genetics-based personalized medicine.
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.
It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.
A Handbook of Clinical Genetics focuses on clinical genetics and the growing demand for genetic counseling. This book begins by introducing issues regarding changes in morbidity and mortality; fall in birth rate; advances in technology and treatment; and complex social changes. Other topics covered include genetic and environmental factors in disease; the genetic code; pedigree information; inheritance patterns; genetic counseling; prenatal diagnosis of genetic disease; special problems; and ethical issues and future developments. The last portion of this text is devoted to a glossary of unfamiliar medical terms, list of recommended books for further research and study, and appendices consist of a case on genetic counseling for Down's syndrome. This handbook is suitable for nurses, medical students, and doctors needing an introduction to clinical genetics.
“Ridley leaps from chromosome to chromosome in a handy summation of our ever increasing understanding of the roles that genes play in disease, behavior, sexual differences, and even intelligence. . . . . He addresses not only the ethical quandaries faced by contemporary scientists but the reductionist danger in equating inheritability with inevitability.” — The New Yorker The genome's been mapped. But what does it mean? Matt Ridley’s Genome is the book that explains it all: what it is, how it works, and what it portends for the future Arguably the most significant scientific discovery of the new century, the mapping of the twenty-three pairs of chromosomes that make up the human genome raises almost as many questions as it answers. Questions that will profoundly impact the way we think about disease, about longevity, and about free will. Questions that will affect the rest of your life. Genome offers extraordinary insight into the ramifications of this incredible breakthrough. By picking one newly discovered gene from each pair of chromosomes and telling its story, Matt Ridley recounts the history of our species and its ancestors from the dawn of life to the brink of future medicine. From Huntington's disease to cancer, from the applications of gene therapy to the horrors of eugenics, Ridley probes the scientific, philosophical, and moral issues arising as a result of the mapping of the genome. It will help you understand what this scientific milestone means for you, for your children, and for humankind.
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.
Integrating classical knowledge of chromosome organisation with recent molecular and functional findings, this book presents an up-to-date view of chromosome organisation and function for advanced undergraduate students studying genetics. The organisation and behaviour of chromosomes is central to genetics and the equal segregation of genes and chromosomes into daughter cells at cell division is vital. This text aims to provide a clear and straightforward explanation of these complex processes. Following a brief historical introduction, the text covers the topics of cell cycle dynamics and DNA replication; mitosis and meiosis; the organisation of DNA into chromatin; the arrangement of chromosomes in interphase; euchromatin and heterochromatin; nucleolus organisers; centromeres and telomeres; lampbrush and polytene chromosomes; chromosomes and evolution; chromosomes and disease, and artificial chromosomes. Topics are illustrated with examples from a wide variety of organisms, including fungi, plants, invertebrates and vertebrates. This book will be valuable resource for plant, animal and human geneticists and cell biologists. Originally a zoologist, Adrian Sumner has spent over 25 years studying human and other mammalian chromosomes with the Medical Research Council (UK). One of the pioneers of chromosome banding, he has used electron microscopy and immunofluorescence to study chromosome organisation and function, and latterly has studied factors involved in chromosome separation at mitosis. Adrian is an Associate Editor of the journal Chromosome Research, acts as a consultant biologist and is also Chair of the Committee of the International Chromosome Conferences. The most up-to-date overview of chromosomes in all their forms. Introduces cutting-edge topics such as artificial chromosomes and studies of telomere biology. Describes the methods used to study chromosomes. The perfect complement to Turner.
Get the BIG PICTURE of Pathology - and focus on what you really need to know to score high on the course and board exam If you want a streamlined and definitive look at Pathology - one with just the right balance of information to give you the edge at exam time - turn to Pathology: The Big Picture. You'll find a succinct, user-friendly presentation especially designed to make even the most complex concept understandable in the shortest amount of study time possible. This perfect pictorial and textual overview of Pathology delivers: A “Big Picture” emphasis on what you must know verses “what's nice to know” Expert authorship by award-winning, active instructors Coverage of the full range of pathology topics - everything from cellular adaptations and injury to genetic disorders to inflammation to diseases of immunity Magnificent 4-color illustrations Numerous summary tables and figures for quick reference and rapid retention of even the most difficult topic Highlighted key concepts that underscore integral aspects of histology (key concepts are also listed in a table at the end of each chapter) USMLE-type questions, answers, and explanations to help you anticipate what you'll encounter on the exams And much more!
