Case Studies In Genes And Disease
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Case Studies In Genes And Disease
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Author : Bryan Bergeron
language : en
Publisher: ACP Press
Release Date : 2004
Case Studies In Genes And Disease written by Bryan Bergeron and has been published by ACP Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004 with Medical categories.
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.
Heritable Human Genome Editing
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Author : The Royal Society
language : en
Publisher: National Academies Press
Release Date : 2021-01-16
Heritable Human Genome Editing written by The Royal Society and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-01-16 with Medical categories.
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.
Genetics In Practice
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Author : Jo Haydon
language : en
Publisher: John Wiley & Sons
Release Date : 2007-10-22
Genetics In Practice written by Jo Haydon and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-10-22 with Medical categories.
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.
Mitochondrial Case Studies
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Author : Russell Saneto
language : en
Publisher: Academic Press
Release Date : 2015-11-24
Mitochondrial Case Studies written by Russell Saneto and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-11-24 with Science categories.
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
Thompson Thompson Genetics In Medicine E Book
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Author : Robert L. Nussbaum
language : en
Publisher: Elsevier Health Sciences
Release Date : 2015-04-28
Thompson Thompson Genetics In Medicine E Book written by Robert L. Nussbaum and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-04-28 with Medical categories.
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.
Case Studies In Infectious Disease
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Author : Peter Lydyard
language : en
Publisher: Garland Science
Release Date : 2021-04-25
Case Studies In Infectious Disease written by Peter Lydyard and has been published by Garland Science this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-04-25 with Health & Fitness categories.
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.
Gene Drives On The Horizon
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Author : National Academies of Sciences, Engineering, and Medicine
language : en
Publisher: National Academies Press
Release Date : 2016-08-28
Gene Drives On The Horizon written by National Academies of Sciences, Engineering, and Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-08-28 with Science categories.
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.
Analysis Of Complex Disease Association Studies
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Author : Eleftheria Zeggini
language : en
Publisher: Academic Press
Release Date : 2010-11-17
Analysis Of Complex Disease Association Studies written by Eleftheria Zeggini and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-11-17 with Science categories.
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
Assessing Genetic Risks
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Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 1994-01-01
Assessing Genetic Risks written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994-01-01 with Medical categories.
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.
Genomics Of Rare Diseases
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Author : Claudia Gonzaga-Jauregui
language : en
Publisher: Academic Press
Release Date : 2021-06-12
Genomics Of Rare Diseases written by Claudia Gonzaga-Jauregui and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-06-12 with Medical categories.
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians