The Human Genome In Health And Disease PDF Download
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| Author | : Tore Samuelsson |
| Publisher | : Garland Science |
| Total Pages | : 543 |
| Release | : 2019-02-07 |
| Genre | : Medical |
| ISBN | : 042966429X |
Download The Human Genome in Health and Disease Book in PDF, ePub and Kindle
The human genome is a linear sequence of roughly 3 billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders. The primary audiences of the book are students of genetics, biology, medicine, molecular biology and bioinformatics. Richly illustrated with review questions provided for each chapter, the book helps students without previous studies of genetics and molecular biology. It may also be of benefit for advanced non-academics, which in the era of personal genomics, want to learn more about their genome. Key selling features: Molecular sequence perspective, explaining the relationship between DNA sequence motifs and biological function Aids in understanding the functional impact of mutations and genetic variants Material presented at basic level, making it accessible to students without previous studies of genetics and molecular biology Richly illustrated with questions provided to each chapter
| Author | : Hans C. Andersson, MD |
| Publisher | : Millbrook Press |
| Total Pages | : 139 |
| Release | : 2020-09-01 |
| Genre | : Young Adult Nonfiction |
| ISBN | : 1728411580 |
Download Genomics Book in PDF, ePub and Kindle
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.
| Author | : National Research Council |
| Publisher | : National Academies Press |
| Total Pages | : 128 |
| Release | : 1988-01-01 |
| Genre | : Science |
| ISBN | : 0309038405 |
Download Mapping and Sequencing the Human Genome Book in PDF, ePub and Kindle
There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
| Author | : Victor Fargo |
| Publisher | : Foster Academics |
| Total Pages | : 254 |
| Release | : 2019-06-25 |
| Genre | : Medical |
| ISBN | : 9781632426963 |
Download The Human Genome in Health and Disease Book in PDF, ePub and Kindle
The human genome refers to the complete set of nucleic acid sequences in humans. It is encoded as DNA in the 23 chromosome pairs. The human genome is over 3 billion base pairs long. Any abnormality in the structure or function of these genes or chromosomes can result in a genetic disorder. Knockouts and mutations in specific genes can have severe consequences in terms of gene function and gene expression. Genetic diseases may occur due to a single gene or due to multiple genes. Over 6000 diseases in humans can be attributed to single-gene defects. When multiple genes contribute to a genetic disorder, such as in the case of diabetes, heart disease, obesity, asthma or autoimmune diseases, it is difficult to study and treat them. A number of diseases are also related to large-scale genomic abnormalities. Nondisjunction of entire chromosomes can lead to disorders such as Turner Syndrome and Down syndrome. This book contains some path-breaking studies on the human genome and its relevance to health care. The topics included in this book on the human genome are of utmost significance and bound to provide incredible insights to readers. It is a vital tool for all researching and studying this field.
| Author | : |
| Publisher | : Academic Press |
| Total Pages | : 290 |
| Release | : 2020-04-08 |
| Genre | : Medical |
| ISBN | : 0128178205 |
Download Genome Plasticity in Health and Disease Book in PDF, ePub and Kindle
Genome Plasticity in Health and Disease provides a fully up-to-date overview on genome plasticity and its role in human physiology and disease. Following an introduction to the field, a diverse range of chapters cover genomic and epigenomic analysis and the use of model organisms and genomic databases in studies. Specific molecular and biochemical mechanisms of genome plasticity are examined, including somatic variants, De Novo variants, founder variations, isolated populations dynamics, copy-number variations, mobile elements, DNA methylation, histone modifications, transcription factors, non-coding RNAs, telomere dynamics and RNA editing. Later chapters explore disease relevance for cancer, as well as cardiovascular, neuropsychiatric, inflammatory, and endocrine disease, and associated pathways for drug discovery. Examines the role of genome plasticity across a range of disease types, from cardiovascular disease, to cancer and neuropsychiatric disorders Adopts an interdisciplinary approach, with expert contributions across the spectrum of basic science and disease relevance to drug discovery
| Author | : Julia E. Richards |
| Publisher | : Academic Press |
| Total Pages | : 600 |
| Release | : 2010-12-12 |
| Genre | : Science |
| ISBN | : 0080918654 |
Download The Human Genome Book in PDF, ePub and Kindle
Significant advances in our knowledge of genetics were made during the twentieth century but in the most recent decades, genetic research has dramatically increased its impact throughout society. Genetic issues are now playing a large role in health and public policy, and new knowledge in this field will continue to have significant implications for individuals and society. Written for the non-majors human genetics course, Human Genetics, Third Edition will increase the genetics knowledge of students who are learning about human genetics for the first time. This thorough revision of the best-selling Human Genome, Second Edition includes entirely new chapters on forensics, stem cell biology, bioinformatics, and societal/ethical issues associated with the field. New special features boxes make connections between human genetics and human health and disease. Carefully crafted pedagogy includes chapter-opening case studies that set the stage for each chapter; concept statements interspersed throughout the chapter that keep first-time students focused on key concepts; and end-of-chapter questions and critical thinking activities. This new edition will contribute to creating a genetically literate student population that understands basic biological research, understands elements of the personal and health implications of genetics, and participates effectively in public policy issues involving genetic information. Includes topical material on forensics, disease studies, and the human genome project to engage non-specialist students Full, 4-color illustration program enhances and reinforces key concepts and themes Uniform organization of chapters includes interest boxes that focus on human health and disease, chapter-opening case studies, and concept statements to engage non-specialist readers
| Author | : The Royal Society |
| Publisher | : National Academies Press |
| Total Pages | : 239 |
| Release | : 2021-01-16 |
| Genre | : Medical |
| ISBN | : 0309671132 |
Download Heritable Human Genome Editing Book in PDF, ePub and Kindle
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.
| Author | : National Research Council |
| Publisher | : National Academies Press |
| Total Pages | : 142 |
| Release | : 2012-01-16 |
| Genre | : Medical |
| ISBN | : 0309222222 |
Download Toward Precision Medicine Book in PDF, ePub and Kindle
Motivated by the explosion of molecular data on humans-particularly data associated with individual patients-and the sense that there are large, as-yet-untapped opportunities to use this data to improve health outcomes, Toward Precision Medicine explores the feasibility and need for "a new taxonomy of human disease based on molecular biology" and develops a potential framework for creating one. The book says that a new data network that integrates emerging research on the molecular makeup of diseases with clinical data on individual patients could drive the development of a more accurate classification of diseases and ultimately enhance diagnosis and treatment. The "new taxonomy" that emerges would define diseases by their underlying molecular causes and other factors in addition to their traditional physical signs and symptoms. The book adds that the new data network could also improve biomedical research by enabling scientists to access patients' information during treatment while still protecting their rights. This would allow the marriage of molecular research and clinical data at the point of care, as opposed to research information continuing to reside primarily in academia. Toward Precision Medicine notes that moving toward individualized medicine requires that researchers and health care providers have access to very large sets of health- and disease-related data linked to individual patients. These data are also critical for developing the information commons, the knowledge network of disease, and ultimately the new taxonomy.
| Author | : Moyra Smith |
| Publisher | : FT Press |
| Total Pages | : 277 |
| Release | : 2011-06-08 |
| Genre | : Medical |
| ISBN | : 0132172844 |
Download Investigating the Human Genome Book in PDF, ePub and Kindle
Leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases in which genetics plays a role. Smith provides an exceptional overview of the most important biomedical progress arising from the greatly increased genetic information base generated by gene mapping and the sequencing of the complete Human Genome. This book addresses into a wide spectrum of topics associated with human genetics and genomics, including: Human origins; migrations and human population diversity gained though genomic analyses. The complexities of psychiatric diseases that are influenced by genetics. The pathogenesis of late-onset neurological diseases such as Alzheimer’s, Parkinsonism, and ALS. Key aspects of protein misfolding. Gene-environment interactions in DNA damage and repair and DNA instability. Micro RNAs and mRNA translation. Epigenetics. New functions for old enzymes in cancer.
| Author | : Muin Khoury |
| Publisher | : Oxford University Press |
| Total Pages | : 701 |
| Release | : 2010-01-20 |
| Genre | : Medical |
| ISBN | : 0199749345 |
Download Human Genome Epidemiology, 2nd Edition Book in PDF, ePub and Kindle
The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace. With contributions from leaders in the field from around the world, this new edition is a fully updated look at the ways in which genetic factors in common diseases are studied. Methodologic developments in collection, analysis and synthesis of data, as well as issues surrounding specific applications of human genomic information for medicine and public health are all discussed. In addition, the book focuses on practical applications of human genome variation in clinical practice and disease prevention. Students, clinicians, public health professionals and policy makers will find the book a useful tool for understanding the rapidly evolving methods of the discovery and use of genetic information in medicine and public health in the 21st century.
