Progress In Medical Genetics

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Medical Genetics

Author : Lynn B. Jorde
Publisher :
ISBN 13 : 9780323035682
Total Pages : 0 pages
Book Rating : 4.0/5 (356 download)

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Book Synopsis Medical Genetics by : Lynn B. Jorde

Download or read book Medical Genetics written by Lynn B. Jorde and published by . This book was released on 2003 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is one of the few medical genetics texts on a 2-year revision cycle. It provides up-to-date information that can be read, retained, and applied with ease! The 3rd Edition covers pharmacogenomics, the societal implications of technologies, the Human Genome Project, cloning, genetic enhancement, and embryonic stem cell research, new tumor suppressor genes and oncogenes, and more. Mini-summaries, study questions, suggested readings, and a detailed glossary facilitate review of the material. Clinical relevance is demonstrated in over 230 photographs, illustrations, and tables as well as boxes containing patient/family vignettes. Its coverage includes ethical, legal, and social issues and clinical commentary on important genetic diseases. A companion web site offers continuing updates and a wealth of additional features. The smart way to study! Elsevier titles with STUDENT CONSULT will help you master difficult concepts and study more efficiently in print and online! Perform rapid searches. Integrate bonus content from other disciplines. Download text to your handheld device. And a lot more. Each STUDENT CONSULT title comes with full text online, a unique image library, case studies, USMLE style questions, and online note-taking to enhance your learning experience. Your purchase of this book entitles you to access www.studentconsult.com at no extra charge. This innovative web site offers you... Access to the complete text and illustrations of this book. Integration links to bonus content in other STUDENT CONSULT titles. Content clipping for your handheld. An interactive community center with a wealth of additional resources. The more STUDENT CONSULT titles you buy, the more resources you can access online! Look for the STUDENT CONSULT logo on your favorite Elsevier textbooks! Features mini-summaries that appear in bold throughout each chapter. Supplies study questions and suggested readings at the end of each chapter. Contains a detailed glossary at the end of the book. Offers Clinical Commentary boxes that present detailed coverage of the most important genetic diseases and provide examples of modern clinical management. Demonstrates clinical relevance with boxed patient/family vignettes and coverage of ethical, legal, and social issues. Provides visual reinforcement and easy access to key information with over 230 photographs, illustrations, and tables. Includes a companion website with continuing content updates, additional clinical images, and more!

Genomics and Health in the Developing World

Author : Dhavendra Kumar
Publisher : Oxford University Press
ISBN 13 : 019970547X
Total Pages : 1569 pages
Book Rating : 4.1/5 (997 download)

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Book Synopsis Genomics and Health in the Developing World by : Dhavendra Kumar

Download or read book Genomics and Health in the Developing World written by Dhavendra Kumar and published by Oxford University Press. This book was released on 2012-05-11 with total page 1569 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.

Mapping and Sequencing the Human Genome

Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309038405
Total Pages : 128 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Mapping and Sequencing the Human Genome by : National Research Council

Download or read book Mapping and Sequencing the Human Genome written by National Research Council and published by National Academies Press. This book was released on 1988-01-01 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Progress in Medical Genetics

Author : Marlene A. Horry
Publisher : Nova Publishers
ISBN 13 : 9781594544897
Total Pages : 326 pages
Book Rating : 4.5/5 (448 download)

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Book Synopsis Progress in Medical Genetics by : Marlene A. Horry

Download or read book Progress in Medical Genetics written by Marlene A. Horry and published by Nova Publishers. This book was released on 2006 with total page 326 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past decade, medical genetics has emerged as an important and powerful medical speciality with increasing appreciation of its role and function among the medical specialities. This emergence is related to a great extent to the progress in the Human Genome Project which promises wide ranging applications in the diagnosis, treatment and prevention of human diseases. Nevertheless, discussions about the role of genetics in preventive medicine and public health rightfully lead to ethical, legal and social concerns about general applicability of genetic testing in the population. The interpretation of the word prevention in the context of genetic diseases leads to the unavoidable discussions of genetic engineering, prenatal diagnosis and selective termination, as well as broader concerns about discrimination in health care coverage, employment and in society.

Medical and Health Genomics

Author : Dhavendra Kumar
Publisher : Academic Press
ISBN 13 : 0127999221
Total Pages : 360 pages
Book Rating : 4.1/5 (279 download)

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Book Synopsis Medical and Health Genomics by : Dhavendra Kumar

Download or read book Medical and Health Genomics written by Dhavendra Kumar and published by Academic Press. This book was released on 2016-06-04 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. - Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management - Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study - Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management - Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Genomics

Author : Hans C. Andersson, MD
Publisher : Millbrook Press
ISBN 13 : 1728411580
Total Pages : 139 pages
Book Rating : 4.7/5 (284 download)

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Book Synopsis Genomics by : Hans C. Andersson, MD

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.

Genetics of Bone Biology and Skeletal Disease

Author : Rajesh V. Thakker
Publisher : Academic Press
ISBN 13 : 0128041986
Total Pages : 880 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Genetics of Bone Biology and Skeletal Disease by : Rajesh V. Thakker

Download or read book Genetics of Bone Biology and Skeletal Disease written by Rajesh V. Thakker and published by Academic Press. This book was released on 2017-10-31 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. - Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments - Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders - Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder

Progress in Medical Genetics

Author : Arthur G. Steinberg
Publisher : Butterworth-Heinemann
ISBN 13 : 1483195058
Total Pages : 160 pages
Book Rating : 4.4/5 (831 download)

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Book Synopsis Progress in Medical Genetics by : Arthur G. Steinberg

Download or read book Progress in Medical Genetics written by Arthur G. Steinberg and published by Butterworth-Heinemann. This book was released on 2013-09-11 with total page 160 pages. Available in PDF, EPUB and Kindle. Book excerpt: Progress in Medical Genetics: Volume 5 covers the improvements in nutrition and control of childhood disease. This book is divided into five chapters that evaluate the characteristics of thalassemias, an inherited defect in hemoglobin. It addresses the genetic control of hemoglobin synthesis and the clinical pictures and nomenclature of the different porphyrias. Some of the topics covered in the book are the genetic aspects of liver disease connected with jaundice; development of the concept of thalassemia as a hemoglobinopathy; bilirubin metabolism; description of hemolytic jaundice; description of hyperbilirubinemia. The succeeding chapters describe the disturbances in bilirubin uptake and conjugation, as well as the clinical diagnosis of familial non-hemolytic hyperbilirubinemias. An analysis of the Dubin-Johnson and Rotor syndrome is provided. The last chapters consider the genetics of muscular and the analysis of autosomal dominant forms of muscular dystrophy. The book can provide useful information to doctors, endocrinologists, students, and researchers.

The Science of Human Perfection

Author : Nathaniel Comfort
Publisher : Yale University Press
ISBN 13 : 0300188870
Total Pages : 371 pages
Book Rating : 4.3/5 (1 download)

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Book Synopsis The Science of Human Perfection by : Nathaniel Comfort

Download or read book The Science of Human Perfection written by Nathaniel Comfort and published by Yale University Press. This book was released on 2012-09-25 with total page 371 pages. Available in PDF, EPUB and Kindle. Book excerpt: Almost daily we hear news stories, advertisements, and scientific reports that promise genetic medicine will make us live longer, enable doctors to identify and treat diseases before they start, and individualize our medical care. But surprisingly, a century ago eugenicists were making the same promises. The Science of Human Perfection traces the history of the promises of medical genetics and of the medical dimension of eugenics. The book also considers social and ethical issues that cast troublesome shadows over these fields./divDIV DIVKeeping his focus on America, science historian Nathaniel Comfort introduces the community of scientists, physicians, and public health workers who have contributed to the development of medical genetics from the nineteenth century to today. He argues that medical genetics is closely related to eugenics, and indeed the two cannot be fully understood separately. He also carefully examines how the desire to relieve suffering and to improve ourselves genetically, though noble, may be subverted. History makes clear that as patients and consumers we must take ownership of genetic medicine, using it intelligently, knowledgeably, and skeptically, lest pernicious interests trump our own./div

Practical Genetic Counselling

Author : Peter Harper
Publisher : CRC Press
ISBN 13 : 1444128590
Total Pages : 417 pages
Book Rating : 4.4/5 (441 download)

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Book Synopsis Practical Genetic Counselling by : Peter Harper

Download or read book Practical Genetic Counselling written by Peter Harper and published by CRC Press. This book was released on 2010-08-27 with total page 417 pages. Available in PDF, EPUB and Kindle. Book excerpt: Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet'...this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal MedicineUniversally used across the world by genetic counsellors, medical

Heritable Human Genome Editing

Author : The Royal Society
Publisher : National Academies Press
ISBN 13 : 0309671132
Total Pages : 239 pages
Book Rating : 4.3/5 (96 download)

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Book Synopsis Heritable Human Genome Editing by : The Royal Society

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.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

Author : Reed E. Pyeritz
Publisher : Elsevier
ISBN 13 : 0128152354
Total Pages : 1227 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Elsevier. This book was released on 2024-10-23 with total page 1227 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. · Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics · Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision · Includes color images supporting identification, concept illustration, and method processing · Features contributions by leading international researchers and practitioners of medical genetics

Progress in Medical Genetics

Author : Arthur Gerald Steinberg
Publisher :
ISBN 13 :
Total Pages : 282 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Progress in Medical Genetics by : Arthur Gerald Steinberg

Download or read book Progress in Medical Genetics written by Arthur Gerald Steinberg and published by . This book was released on 1988 with total page 282 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Genomic Medicine

Author : Dhavendra Kumar
Publisher : Oxford Monographs on Medical G
ISBN 13 : 019989602X
Total Pages : 853 pages
Book Rating : 4.1/5 (998 download)

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Book Synopsis Genomic Medicine by : Dhavendra Kumar

Download or read book Genomic Medicine written by Dhavendra Kumar and published by Oxford Monographs on Medical G. This book was released on 2014-10-15 with total page 853 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Genes, Behavior, and the Social Environment

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309133815
Total Pages : 384 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Genes, Behavior, and the Social Environment by : Institute of Medicine

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 2006-11-07 with total page 384 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.

Advances in Animal Genomics

Author : Sukanta Mondal
Publisher : Academic Press
ISBN 13 : 0128206128
Total Pages : 340 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Advances in Animal Genomics by : Sukanta Mondal

Download or read book Advances in Animal Genomics written by Sukanta Mondal and published by Academic Press. This book was released on 2020-11-25 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Animal Genomics provides an outstanding collection of integrated strategies involving traditional and modern - omics (structural, functional, comparative and epigenomics) approaches and genomics-assisted breeding methods which animal biotechnologists can utilize to dissect and decode the molecular and gene regulatory networks involved in the complex quantitative yield and stress tolerance traits in livestock. Written by international experts on animal genomics, this book explores the recent advances in high-throughput, next-generation whole genome and transcriptome sequencing, array-based genotyping, and modern bioinformatics approaches which have enabled to produce huge genomic and transcriptomic resources globally on a genome-wide scale. This book is an important resource for researchers, students, educators and professionals in agriculture, veterinary and biotechnology sciences that enables them to solve problems regarding sustainable development with the help of current innovative biotechnologies. - Integrates basic and advanced concepts of animal biotechnology and presents future developments - Describes current high-throughput next-generation whole genome and transcriptome sequencing, array-based genotyping, and modern bioinformatics approaches for sustainable livestock production - Illustrates integrated strategies to dissect and decode the molecular and gene regulatory networks involved in complex quantitative yield and stress tolerance traits in livestock - Ensures readers will gain a strong grasp of biotechnology for sustainable livestock production with its well-illustrated discussion

Mobilizing Mutations

Author : Daniel Navon
Publisher : University of Chicago Press
ISBN 13 : 022663809X
Total Pages : 409 pages
Book Rating : 4.2/5 (266 download)

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Book Synopsis Mobilizing Mutations by : Daniel Navon

Download or read book Mobilizing Mutations written by Daniel Navon and published by University of Chicago Press. This book was released on 2019-09-20 with total page 409 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.