Mapping and Sequencing the Human Genome

Mapping and Sequencing the Human Genome
Author: National Research Council
Publisher: National Academies Press
Total Pages: 128
Release: 1988-01-01
Genre: Science
ISBN: 0309038405
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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.

Mobilizing Mutations

Mobilizing Mutations
Author: Daniel Navon
Publisher: University of Chicago Press
Total Pages: 409
Release: 2019-09-20
Genre: Medical
ISBN: 022663809X
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With every passing year, more and more people learn that they or their young or unborn child carries a genetic mutation. But what does this mean for the way we understand a person? Today, genetic mutations are being used to diagnose novel conditions like the XYY, Fragile X, NGLY1 mutation, and 22q11.2 Deletion syndromes, carving out rich new categories of human disease and difference. Daniel Navon calls this form of categorization “genomic designation,” and in Mobilizing Mutations he shows how mutations, and the social factors that surround them, are reshaping human classification. Drawing on a wealth of fieldwork and historical material, Navon presents a sociological account of the ways genetic mutations have been mobilized and transformed in the sixty years since it became possible to see abnormal human genomes, providing a new vista onto the myriad ways contemporary genetic testing can transform people’s lives. Taking us inside these shifting worlds of research and advocacy over the last half century, Navon reveals the ways in which knowledge about genetic mutations can redefine what it means to be ill, different, and ultimately, human.

Evaluating Human Genetic Diversity

Evaluating Human Genetic Diversity
Author: National Research Council
Publisher: National Academies Press
Total Pages: 101
Release: 1998-01-19
Genre: Science
ISBN: 0309184746
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This book assesses the scientific value and merit of research on human genetic differencesâ€"including a collection of DNA samples that represents the whole of human genetic diversityâ€"and the ethical, organizational, and policy issues surrounding such research. Evaluating Human Genetic Diversity discusses the potential uses of such collection, such as providing insight into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.

Human Genetics and Genomics

Human Genetics and Genomics
Author: Bruce R. Korf
Publisher: John Wiley & Sons
Total Pages: 280
Release: 2012-11-19
Genre: Medical
ISBN: 1118537661
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This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

History of Human Genetics

History of Human Genetics
Author: Heike I. Petermann
Publisher: Springer
Total Pages: 562
Release: 2017-05-10
Genre: Medical
ISBN: 331951783X
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Written by 30 authors from all over the world, this book provides a unique overview of exciting discoveries and surprising developments in human genetics over the last 50 years. The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.

Human Genome Editing

Human Genome Editing
Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
Total Pages: 329
Release: 2017-08-13
Genre: Medical
ISBN: 0309452880
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Genome editing is a powerful new tool for making precise alterations to an organism's genetic material. Recent scientific advances have made genome editing more efficient, precise, and flexible than ever before. These advances have spurred an explosion of interest from around the globe in the possible ways in which genome editing can improve human health. The speed at which these technologies are being developed and applied has led many policymakers and stakeholders to express concern about whether appropriate systems are in place to govern these technologies and how and when the public should be engaged in these decisions. Human Genome Editing considers important questions about the human application of genome editing including: balancing potential benefits with unintended risks, governing the use of genome editing, incorporating societal values into clinical applications and policy decisions, and respecting the inevitable differences across nations and cultures that will shape how and whether to use these new technologies. This report proposes criteria for heritable germline editing, provides conclusions on the crucial need for public education and engagement, and presents 7 general principles for the governance of human genome editing.

Human Genome Epidemiology, 2nd Edition

Human Genome Epidemiology, 2nd Edition
Author: Muin J. Khoury
Publisher: Oxford University Press
Total Pages: 701
Release: 2010-01-20
Genre: Medical
ISBN: 0195398440
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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.

Heritable Human Genome Editing

Heritable Human Genome Editing
Author: The Royal Society
Publisher: National Academies Press
Total Pages: 239
Release: 2021-01-16
Genre: Medical
ISBN: 0309671132
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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.