Download or read book Case Studies in Genes and Disease written by Bryan Bergeron and published by ACP Press. This book was released on 2004 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: Progress in the field of genetics is moving faster and demonstrating accomplishments unlike ever before. Genes marking for specific diseases and methods in gene therapy are evolving rapidly and being incorporated into daily patient care. Ethical issues are under constant debate by politicians, journalists, and laymen. All health care providers need to stay informed on the research, the applicability to patient management, and the moral issues involved. Case Studies in Genes and Disease tackles all these issues for those who need it most: busy clinicians who daily see patients needing to know how advances in genetic research and therapy affect their health. Written for practitioners who are not geneticists, it does not presume an expert's familiarity with the subject. From fundamentals to specific diseases to "the dark side" of genetics, Case Studies in Genes and Disease will educate, intrigue, and astound you.
Download or read book Heritable Human Genome Editing written by The Royal Society and published by National Academies Press. This book was released on 2021-01-16 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
Download or read book Gene Drives on the Horizon written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2016-08-28 with total page 231 pages. Available in PDF, EPUB and Kindle. Book excerpt: Research on gene drive systems is rapidly advancing. Many proposed applications of gene drive research aim to solve environmental and public health challenges, including the reduction of poverty and the burden of vector-borne diseases, such as malaria and dengue, which disproportionately impact low and middle income countries. However, due to their intrinsic qualities of rapid spread and irreversibility, gene drive systems raise many questions with respect to their safety relative to public and environmental health. Because gene drive systems are designed to alter the environments we share in ways that will be hard to anticipate and impossible to completely roll back, questions about the ethics surrounding use of this research are complex and will require very careful exploration. Gene Drives on the Horizon outlines the state of knowledge relative to the science, ethics, public engagement, and risk assessment as they pertain to research directions of gene drive systems and governance of the research process. This report offers principles for responsible practices of gene drive research and related applications for use by investigators, their institutions, the research funders, and regulators.
Download or read book Mitochondrial Case Studies written by Russell Saneto and published by Academic Press. This book was released on 2015-11-24 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis offers the science behind mitochondrial disease with a case studies approach. Since mitochondrial diseases are diverse and influenced by genetic, environmental, and social-economic factors, this publication will help students, physicians, scientists, health care students, and families recognize and accurately diagnose mitochondrial disease and learn about potential treatments. Reviews case studies as a helpful teaching tool to increase awareness and improve diagnosis Provides information on underlying mechanisms of mitochondrial disease Includes basic mitochondrial dysfunction research through patient case studies to best illustrate the entire disease process
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genes Behavior and the Social Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2006-12-07 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.
Download or read book Life Histories of Genetic Disease written by Andrew J. Hogan and published by Johns Hopkins University Press+ORM. This book was released on 2016-10-30 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Case Studies in Infectious Disease written by Peter Lydyard and published by Garland Science. This book was released on 2021-04-25 with total page 1262 pages. Available in PDF, EPUB and Kindle. Book excerpt: Case Studies in Infectious Disease presents forty case studies featuring the most important human infectious diseases worldwide. Written for students of microbiology and medicine this book describes the natural history of infection from point of entry of the pathogen through pathogenesis, followed by clinical presentation, diagnosis and treatment. Five core sets of questions are posed in each case. What is the nature of the infectious agent, how does it gain access to the body, what cells are infected, and how does the organism spread? What are the host defense mechanisms against the agent and how is the disease caused? What are the typical manifestations of the infection and the complications that can occur? How is the infection diagnosed and what is the differential diagnosis? How is the infection managed, and what preventative measures can be taken to avoid infection? This standardized approach provides the reader with a logical basis for understanding these diverse and medically important organisms, fully integrating microbiology and immunology throughout.
Download or read book Medical Genetics for the Modern Clinician written by Judith A. Westman and published by Lippincott Williams & Wilkins. This book was released on 2006 with total page 218 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical Genetics for the Modern Clinician is a concise, clinically oriented introductory genetics text for medical and allied health students, residents, and clinicians. The book focuses sharply on concepts that are most applicable to clinical practice. Ethics sections in each chapter discuss ethical issues facing today's practitioner, such as counseling, risk assessment, and testing. More than 120 illustrations help students visualize concepts. Each chapter ends with USMLE-style review questions. Appendices include a glossary and a Table of Genes that lists all genes covered in the text by chapter. Faculty resources, case studies, and downloadable full-color images will be available on connection.LWW.com/go/westman.
Download or read book Genomics written by Hans C. Andersson, MD and published by Millbrook Press. This book was released on 2020-09-01 with total page 139 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past 50 years, scientists have made incredible progress in the application of genetic research to human health care and disease treatment. Innovative tools and techniques, including gene therapy and CRISPR-Cas9 editing, can treat inherited disorders that were previously untreatable, or prevent them from happening in the first place. You can take a DNA test to learn where your ancestors are from. Police officers can use genetic evidence to identify criminals—or innocents. And some doctors are using new medical techniques for unprecedented procedures. Genomics: A Revolution in Health and Disease Discovery delves into the history, science, and ethics behind recent breakthroughs in genetic research. Authors Whitney Stewart and Hans Andersson, MD, present fascinating case studies that show how real people have benefitted from genetic research. Though the genome remains full of mysteries, researchers and doctors are working hard to uncover its secrets and find the best ways to treat patients and cure diseases. The discoveries to come will inform how we target disease treatment, how we understand our health, and how we define our very identities.
Download or read book Thompson Thompson Genetics in Medicine E Book written by Robert L. Nussbaum and published by Elsevier Health Sciences. This book was released on 2015-04-28 with total page 528 pages. Available in PDF, EPUB and Kindle. Book excerpt: Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in Medicine returns as one of the most favored texts in this fascinating and rapidly evolving field. By integrating the classic principles of human genetics with modern molecular genetics, this medical reference book utilizes a variety of learning tools to help you understand a wide range of genetic disorders. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. Immerse yourself in updated graphics, full-color text, illustrations, line diagrams, and clinical photos of genetic diseases. Explore the latest genetic content available in order to remain up to date on the most current trends in the field. Take advantage of a double-page clinical case study section that demonstrates and reinforces general principles of disease inheritance, pathogenesis, diagnosis, management, and counseling. Enhance your critical thinking skills and better retain information. Each chapter ends with up to 5 quick genetic "problems" related to what has just been reviewed, with answers provided in the back of the book.
Download or read book Genetics in Practice written by Jo Haydon and published by John Wiley & Sons. This book was released on 2007-10-22 with total page 290 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nurses are increasingly being asked to provide information when a genetic diagnosis is made, whether to the individual patient or to members of his or her family. This book provides a comprehensive introduction to present day genetic services, to help professionals feel more confident when dealing with queries or advising where to go for further information. Comprehensive case studies are used to explain the various models of inheritance and explore the possibilities for families, following genetic diagnosis. Family history-taking, risk assessment, basic biology of chromosomes and genes, and laboratory techniques are all described. Issues of ethnicity and ethics are addressed. The book also discusses the development of the role of the genetic nurse counselor.
Download or read book Your Genes Your Choices written by Catherine Baker and published by . This book was released on 1996 with total page 96 pages. Available in PDF, EPUB and Kindle. Book excerpt: Program discusses the Human Genome Project, the science behind it, and the ethical, legal and social issues raised by the project.
Download or read book Analysis of Complex Disease Association Studies written by Eleftheria Zeggini and published by Academic Press. This book was released on 2010-11-17 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. This burgeoning science merges the principles of statistics and genetics studies to make sense of the vast amounts of information available with the mapping of genomes. In order to make the most of the information available, statistical tools must be tailored and translated for the analytical issues which are original to large-scale association studies. Analysis of Complex Disease Association Studies will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. With the use of consistent examples throughout the work, chapters will provide readers with best practice for getting started (design), analyzing, and interpreting data according to their research interests. Frequently used tests will be highlighted and a critical analysis of the advantages and disadvantage complimented by case studies for each will provide readers with the information they need to make the right choice for their research. Additional tools including links to analysis tools, tutorials, and references will be available electronically to ensure the latest information is available. Easy access to key information including advantages and disadvantage of tests for particular applications, identification of databases, languages and their capabilities, data management risks, frequently used tests Extensive list of references including links to tutorial websites Case studies and Tips and Tricks
Download or read book Evolution of Translational Omics written by Institute of Medicine and published by National Academies Press. This book was released on 2012-09-13 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.
Download or read book Medical Genetics for the MRCOG and Beyond written by Edward S. Tobias and published by Cambridge University Press. This book was released on 2014-03-20 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clear, understandable and concise with an accompanying internet guide, this is an unbeatable resource for learning, revision and staying up to date.
Download or read book Applied Longitudinal Data Analysis written by Judith D. Singer and published by Oxford University Press. This book was released on 2003-03-27 with total page 672 pages. Available in PDF, EPUB and Kindle. Book excerpt: By charting changes over time and investigating whether and when events occur, researchers reveal the temporal rhythms of our lives.
