The Human Genome in Health and Disease

The Human Genome in Health and Disease PDF Author: Tore Samuelsson
Publisher: Garland Science
ISBN: 042966429X
Category : Medical
Languages : en
Pages : 543

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Book Description
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

The Human Genome in Health and Disease

The Human Genome in Health and Disease PDF Author: Tore Samuelsson
Publisher: Garland Science
ISBN: 042966429X
Category : Medical
Languages : en
Pages : 543

Get Book

Book Description
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

Mapping and Sequencing the Human Genome

Mapping and Sequencing the Human Genome PDF Author: National Research Council
Publisher: National Academies Press
ISBN: 0309038405
Category : Science
Languages : en
Pages : 128

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Book Description
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.

Genome Plasticity in Health and Disease

Genome Plasticity in Health and Disease PDF Author:
Publisher: Academic Press
ISBN: 0128178205
Category : Medical
Languages : en
Pages : 290

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Book Description
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

The Human Genome in Health and Disease

The Human Genome in Health and Disease PDF Author: Victor Fargo
Publisher: Foster Academics
ISBN: 9781632426963
Category : Medical
Languages : en
Pages : 254

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Book Description
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.

Heritable Human Genome Editing

Heritable Human Genome Editing PDF Author: The Royal Society
Publisher: National Academies Press
ISBN: 0309671132
Category : Medical
Languages : en
Pages : 239

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Book Description
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.

Genomics

Genomics PDF Author: Hans C. Andersson, MD
Publisher: Millbrook Press
ISBN: 1728411580
Category : Young Adult Nonfiction
Languages : en
Pages : 139

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Book Description
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.

Human Genome Epidemiology, 2nd Edition

Human Genome Epidemiology, 2nd Edition PDF Author: Muin Khoury
Publisher: Oxford University Press
ISBN: 9780199749348
Category : Medical
Languages : en
Pages : 704

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Book Description
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.

The Human Genome

The Human Genome PDF Author: Julia E. Richards
Publisher: Academic Press
ISBN: 9780080918655
Category : Science
Languages : en
Pages : 420

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Book Description
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, 3E 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,2E 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

The Material Gene

The Material Gene PDF Author: Kelly E. Happe
Publisher: NYU Press
ISBN: 0814790690
Category : Social Science
Languages : en
Pages : 305

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Book Description
Winner of the 2014 Diamond Anniversary Book Award Finalist for the 2014 National Communications Association Critical and Cultural Studies Division Book of the Year Award In 2000, the National Human Genome Research Institute announced the completion of a “draft” of the human genome, the sequence information of nearly all 3 billion base pairs of DNA. Since then, interest in the hereditary basis of disease has increased considerably. In The Material Gene, Kelly E. Happe considers the broad implications of this development by treating “heredity” as both a scientific and political concept. Beginning with the argument that eugenics was an ideological project that recast the problems of industrialization as pathologies of gender, race, and class, the book traces the legacy of this ideology in contemporary practices of genomics. Delving into the discrete and often obscure epistemologies and discursive practices of genomic scientists, Happe maps the ways in which the hereditarian body, one that is also normatively gendered and racialized, is the new site whereby economic injustice, environmental pollution, racism, and sexism are implicitly reinterpreted as pathologies of genes and by extension, the bodies they inhabit. Comparing genomic approaches to medicine and public health with discourses of epidemiology, social movements, and humanistic theories of the body and society, The Material Gene reworks our common assumption of what might count as effective, just, and socially transformative notions of health and disease.

Genes, Behavior, and the Social Environment

Genes, Behavior, and the Social Environment PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309101964
Category : Social Science
Languages : en
Pages : 385

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Book Description
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.