Life Histories Of Genetic Disease
DOWNLOAD
Download Life Histories Of Genetic Disease PDF/ePub or read online books in Mobi eBooks. Click Download or Read Online button to get Life Histories Of Genetic Disease book now. This website allows unlimited access to, at the time of writing, more than 1.5 million titles, including hundreds of thousands of titles in various foreign languages. If the content not found or just blank you must refresh this page
Life Histories Of Genetic Disease
DOWNLOAD
Author : Andrew J. Hogan
language : en
Publisher: Johns Hopkins University Press+ORM
Release Date : 2016-10-30
Life Histories Of Genetic Disease written by Andrew J. Hogan and has been published by Johns Hopkins University Press+ORM this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-10-30 with Medical categories.
A richly detailed history that “uncovers the challenges and limitations of our increasing reliance on genetic data in medical decision making” (Shobita Parthasarathy, author of Building Genetic Medicine). Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing expectant parents to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In this book, Andrew J. Hogan explores how various diseases were “made genetic” after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly “big data”–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies offer whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.
Life Histories Of Genetic Disease
DOWNLOAD
Author : Andrew J. Hogan
language : en
Publisher: JHU Press
Release Date : 2016-11
Life Histories Of Genetic Disease written by Andrew J. Hogan and has been published by JHU Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-11 with Medical categories.
A history of genetic testing warns that such tests may tell us more than we want to know. Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing today’s expecting parents to choose to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In Life Histories of Genetic Disease, Andrew J. Hogan explores how various diseases were “made genetic” after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly “big data”–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests that all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies have begun offering whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s focus and analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.
Genome
DOWNLOAD
Author : Jerry E. Bishop
language : en
Publisher: Open Road Media
Release Date : 2014-07-29
Genome written by Jerry E. Bishop and has been published by Open Road Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-07-29 with Science categories.
An “invaluable [and] highly readable” account of the quest to map our DNA, the blueprint for life—and what it means for our future ( The Philadelphia Inquirer). Genome tells the story of the most ambitious scientific adventure of our time. By gradually isolating and identifying all the genes in the human body—the blueprint for life—scientists are closing in on the ability to effectively treat and prevent nearly every disease that strikes man, from muscular dystrophy, diabetes, and cancer to heart ailments, alcoholism, and even mental illness. Such discoveries will change the course of human life. At the same time, they raise profound ethical questions that have tremendous implications: Can insurance companies demand genetic tests to determine who poses a health risk? Should parents be able to choose their baby’s sex or eye color? Will employers screen out potential employees who are genetically susceptible to occupational health problems? An exciting true tale of discovery that is revolutionizing our world, Genome helps us understand our future.
The History Of A Genetic Disease
DOWNLOAD
Author : Alan E. H. Emery
language : en
Publisher: Oxford University Press
Release Date : 2011-02-10
The History Of A Genetic Disease written by Alan E. H. Emery and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-02-10 with Medical categories.
Duchenne Muscular Dystrophy is a disease that only affects males, with an incidence of around 1 in 3500 new-born baby boys. Its relentless progress is charterized by loss of the ability to walk by around the age of 10 or 11, leading to a wheelchair life, and dealth from cardiac and respiratory problems usually around the late teens or early twenties. Edward Meryon was the first person to give a full and detailed clinical description of what later research knows as Duchenne Muscular Dystrophy. His research identified many facets of the condition which we now take for granted, for example that it only affects males, that it is an inherited condition carried in female genes, that it is a disease of the muscle system, and its causes. Until recently, Meryon has not been given credit for his contribution to the subject. In this book, the history of Duchenne Muscular Dystrophy is traced in detail, and is interwoven with a commentary of Meryon's research which has led to our current understanding of the disease, will full refences and informative, historically relevant illustrations. This book concludes with a summary of the current position regarding diagnosis, prevention through counselling and prenatal diagnosis, and new encouraging approaches to treatment through molecular genetics.
Signs And Symptoms Of Genetic Conditions
DOWNLOAD
Author : Louanne Hudgins
language : en
Publisher: Oxford University Press
Release Date : 2014-05-30
Signs And Symptoms Of Genetic Conditions written by Louanne Hudgins and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-05-30 with Medical categories.
Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis. To maximize clinical utility, this handbook features: · Prominent flow chart diagrams that graphically depict the diagnostic approach · Concise recommendations for laboratory and/or imaging studies · Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.
Mercies In Disguise
DOWNLOAD
Author : Gina Kolata
language : en
Publisher: Macmillan + ORM
Release Date : 2017-03-21
Mercies In Disguise written by Gina Kolata and has been published by Macmillan + ORM this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-03-21 with Medical categories.
"[Kolata] is a gifted storyteller. Her account of the Baxleys... is both engrossing and distressing... Kolata's book raises crucial questions about knowledge that can be both vital and fatal, both pallative and dangerous." —Andrew Solomon, The New York Review of Books New York Times science reporter Gina Kolata follows a family through genetic illness and one courageous daughter who decides her fate shall no longer be decided by a genetic flaw. The phone rings. The doctor from California is on the line. “Are you ready Amanda?” The two people Amanda Baxley loves the most had begged her not to be tested—at least, not now. But she had to find out. If your family carried a mutated gene that foretold a brutal illness and you were offered the chance to find out if you’d inherited it, would you do it? Would you walk toward the problem, bravely accepting whatever answer came your way? Or would you avoid the potential bad news as long as possible? In Mercies in Disguise, acclaimed New York Times science reporter and bestselling author Gina Kolata tells the story of the Baxleys, an almost archetypal family in a small town in South Carolina. A proud and determined clan, many of them doctors, they are struck one by one with an inscrutable illness. They finally discover the cause of the disease after a remarkable sequence of events that many saw as providential. Meanwhile, science, progressing for a half a century along a parallel track, had handed the Baxleys a resolution—not a cure, but a blood test that would reveal who had the gene for the disease and who did not. And science would offer another dilemma—fertility specialists had created a way to spare the children through an expensive process. A work of narrative nonfiction, Mercies in Disguise is the story of a family that took matters into its own hands when the medical world abandoned them. It’s a story of a family that had to deal with unspeakable tragedy and yet did not allow it to tear them apart. And it is the story of a young woman—Amanda Baxley—who faced the future head on, determined to find a way to disrupt her family’s destiny.
Assessing Genetic Risks
DOWNLOAD
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.
The Gene
DOWNLOAD
Author : Siddhartha Mukherjee
language : en
Publisher: Random House
Release Date : 2016-06-02
The Gene written by Siddhartha Mukherjee and has been published by Random House this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-06-02 with Science categories.
** NEW YORK TIMES NUMBER ONE BESTSELLER ** The Gene is the story of one of the most powerful and dangerous ideas in our history from the author of The Emperor of All Maladies. The story begins in an Augustinian abbey in 1856, and takes the reader from Darwin’s groundbreaking theory of evolution, to the horrors of Nazi eugenics, to present day and beyond - as we learn to “read” and “write” the human genome that unleashes the potential to change the fates and identities of our children. Majestic in its scope and ambition, The Gene provides us with a definitive account of the epic history of the quest to decipher the master-code that makes and defines humans – and paints a fascinating vision of both humanity’s past and future. For fans of Sapiens by Yuval Noah Harari, A Brief History of Time by Stephen Hawking and Being Mortal by Atul Gwande. ‘Siddhartha Mukherjee is the perfect person to guide us through the past, present, and future of genome science’ Bill Gates ‘A thrilling and comprehensive account of what seems certain to be the most radical, controversial and, to borrow from the subtitle, intimate science of our time...Read this book and steel yourself for what comes next’ Sunday Times
A Primer Of Life Histories
DOWNLOAD
Author : Jeffrey A. Hutchings
language : en
Publisher: Oxford University Press
Release Date : 2021-09-15
A Primer Of Life Histories written by Jeffrey A. Hutchings and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-09-15 with Science categories.
Life histories can be defined as the means by which individuals (or more precisely genotypes) vary their age- or stage-specific expenditures of reproductive effort in response to genetic, phenotypic, and environmental correlates of survival and fecundity. Life histories reflect the expression of traits most closely related to individual fitness, such as age and size at maturity, number and size of offspring, and the timing of the expression of those traits throughout an individual's life. In addition to addressing questions of fundamental importance to ecology and evolution, life-history research plays an integral role in species conservation and management. This accessible primer encompasses the basic concepts, theories, and applied elements of life history evolution, including patterns of trait variability, underlying mechanisms of plastic/evolutionary change, and the practical utility of life-history traits as metrics of species/population recovery, sustainable exploitation, and risk of extinction. Empirical examples are drawn from the entire spectrum of life. A Primer of Life Histories is designed for readers from a broad range of academic backgrounds and experience including graduate students and researchers of ecology and evolutionary biology. It will also be useful to a more applied audience of academic/government researchers in fields such as wildlife biology, conservation biology, fisheries science, and the environmental sciences.
The Family Gene
DOWNLOAD
Author : Joselin Linder
language : en
Publisher: HarperCollins
Release Date : 2017-03-14
The Family Gene written by Joselin Linder and has been published by HarperCollins this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-03-14 with Biography & Autobiography categories.
A riveting medical mystery about a young woman’s quest to uncover the truth about her likely fatal genetic disorder that opens a window onto the exploding field of genomic medicine When Joselin Linder was in her twenties her legs suddenly started to swell. After years of misdiagnoses, doctors discovered a deadly blockage in her liver. Struggling to find an explanation for her unusual condition, Joselin compared the medical chart of her father—who had died from a mysterious disease, ten years prior—with that of an uncle who had died under similarly strange circumstances. Delving further into the past, she discovered that her great-grandmother had displayed symptoms similar to hers before her death. Clearly, this was more than a fluke. Setting out to build a more complete picture of the illness that haunted her family, Joselin approached Dr. Christine Seidman, the head of a group of world-class genetic researchers at Harvard Medical School, for help. Dr. Seidman had been working on her family’s case for twenty years and had finally confirmed that fourteen of Joselin’s relatives carried something called a private mutation—meaning that they were the first known people to experience the baffling symptoms of a brand new genetic mutation. Here, Joselin tells the story of their gene: the lives it claimed and the future of genomic medicine with the potential to save those that remain. Digging into family records and medical history, conducting interviews with relatives and friends, and reflecting on her own experiences with the Harvard doctor, Joselin pieces together the lineage of this deadly gene to write a gripping and unforgettable exploration of family, history, and love. A compelling chronicle of survival and perseverance, The Family Gene is an important story of a young woman reckoning with her father’s death, her own mortality, and her ethical obligations to herself and those closest to her.