Life Histories Of Genetic Disease

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Life Histories of Genetic Disease

Author : Andrew J. Hogan
Publisher : Johns Hopkins University Press+ORM
ISBN 13 : 1421420759
Total Pages : 264 pages
Book Rating : 4.4/5 (214 download)

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Book Synopsis Life Histories of Genetic Disease by : Andrew J. Hogan

Download or read book Life Histories of Genetic Disease written by Andrew J. Hogan and published by Johns Hopkins University Press+ORM. This book was released on 2016-10-30 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Mercies in Disguise

Author : Gina Kolata
Publisher : Macmillan + ORM
ISBN 13 : 1250123992
Total Pages : 215 pages
Book Rating : 4.2/5 (51 download)

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Book Synopsis Mercies in Disguise by : Gina Kolata

Download or read book Mercies in Disguise written by Gina Kolata and published by Macmillan + ORM. This book was released on 2017-03-21 with total page 215 pages. Available in PDF, EPUB and Kindle. Book excerpt: "[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.

The Family Gene

Author : Joselin Linder
Publisher : HarperCollins
ISBN 13 : 0062378929
Total Pages : 245 pages
Book Rating : 4.0/5 (623 download)

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Book Synopsis The Family Gene by : Joselin Linder

Download or read book The Family Gene written by Joselin Linder and published by HarperCollins. This book was released on 2017-03-14 with total page 245 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

The History of a Genetic Disease

Author : Alan E. H. Emery
Publisher : Oxford University Press
ISBN 13 : 0199591474
Total Pages : 257 pages
Book Rating : 4.1/5 (995 download)

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Book Synopsis The History of a Genetic Disease by : Alan E. H. Emery

Download or read book The History of a Genetic Disease written by Alan E. H. Emery and published by Oxford University Press. This book was released on 2011-02-10 with total page 257 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

The PKU Paradox

Author : Diane B. Paul
Publisher : JHU Press
ISBN 13 : 1421411318
Total Pages : 316 pages
Book Rating : 4.4/5 (214 download)

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Book Synopsis The PKU Paradox by : Diane B. Paul

Download or read book The PKU Paradox written by Diane B. Paul and published by JHU Press. This book was released on 2013-12 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: How did a disease of marginal public health significance acquire paradigmatic status in public health and genetics? In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox. PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. Programs to detect PKU and start treatment early are deservedly considered a public health success story. Some have traded on this success to urge expanded newborn screening, defend basic research in genetics, and confront proponents of genetic determinism. In this context, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting. In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing. The PKU Paradox is informed by interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.

The Gene

Author : Siddhartha Mukherjee
Publisher : Simon and Schuster
ISBN 13 : 1476733538
Total Pages : 624 pages
Book Rating : 4.4/5 (767 download)

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Book Synopsis The Gene by : Siddhartha Mukherjee

Download or read book The Gene written by Siddhartha Mukherjee and published by Simon and Schuster. This book was released on 2016-05-17 with total page 624 pages. Available in PDF, EPUB and Kindle. Book excerpt: The #1 NEW YORK TIMES Bestseller The basis for the PBS Ken Burns Documentary The Gene: An Intimate History Now includes an excerpt from Siddhartha Mukherjee’s new book Song of the Cell! From the Pulitzer Prize–winning author of The Emperor of All Maladies—a fascinating history of the gene and “a magisterial account of how human minds have laboriously, ingeniously picked apart what makes us tick” (Elle). “Sid Mukherjee has the uncanny ability to bring together science, history, and the future in a way that is understandable and riveting, guiding us through both time and the mystery of life itself.” —Ken Burns “Dr. Siddhartha Mukherjee dazzled readers with his Pulitzer Prize-winning The Emperor of All Maladies in 2010. That achievement was evidently just a warm-up for his virtuoso performance in The Gene: An Intimate History, in which he braids science, history, and memoir into an epic with all the range and biblical thunder of Paradise Lost” (The New York Times). In this biography Mukherjee brings to life the quest to understand human heredity and its surprising influence on our lives, personalities, identities, fates, and choices. “Mukherjee expresses abstract intellectual ideas through emotional stories…[and] swaddles his medical rigor with rhapsodic tenderness, surprising vulnerability, and occasional flashes of pure poetry” (The Washington Post). Throughout, the story of Mukherjee’s own family—with its tragic and bewildering history of mental illness—reminds us of the questions that hang over our ability to translate the science of genetics from the laboratory to the real world. In riveting and dramatic prose, he describes the centuries of research and experimentation—from Aristotle and Pythagoras to Mendel and Darwin, from Boveri and Morgan to Crick, Watson and Franklin, all the way through the revolutionary twenty-first century innovators who mapped the human genome. “A fascinating and often sobering history of how humans came to understand the roles of genes in making us who we are—and what our manipulation of those genes might mean for our future” (Milwaukee Journal-Sentinel), The Gene is the revelatory and magisterial history of a scientific idea coming to life, the most crucial science of our time, intimately explained by a master. “The Gene is a book we all should read” (USA TODAY).

The Woman Who Walked into the Sea

Author : Alice Wexler
Publisher : Yale University Press
ISBN 13 : 0300151772
Total Pages : 277 pages
Book Rating : 4.3/5 (1 download)

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Book Synopsis The Woman Who Walked into the Sea by : Alice Wexler

Download or read book The Woman Who Walked into the Sea written by Alice Wexler and published by Yale University Press. This book was released on 2008-09-30 with total page 277 pages. Available in PDF, EPUB and Kindle. Book excerpt: A groundbreaking medical and social history of a devastating hereditary neurological disorder once demonized as “the witchcraft disease” When Phebe Hedges, a woman in East Hampton, New York, walked into the sea in 1806, she made visible the historical experience of a family affected by the dreaded disorder of movement, mind, and mood her neighbors called St.Vitus's dance. Doctors later spoke of Huntington’s chorea, and today it is known as Huntington's disease. This book is the first history of Huntington’s in America. Starting with the life of Phebe Hedges, Alice Wexler uses Huntington’s as a lens to explore the changing meanings of heredity, disability, stigma, and medical knowledge among ordinary people as well as scientists and physicians. She addresses these themes through three overlapping stories: the lives of a nineteenth-century family once said to “belong to the disease”; the emergence of Huntington’s chorea as a clinical entity; and the early-twentieth-century transformation of this disorder into a cautionary eugenics tale. In our own era of expanding genetic technologies, this history offers insights into the social contexts of medical and scientific knowledge, as well as the legacy of eugenics in shaping both the knowledge and the lived experience of this disease.

Assessing Genetic Risks

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Assessing Genetic Risks by : Institute of Medicine

Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Life Histories of Genetic Disease

Author : Andrew J. Hogan
Publisher : JHU Press
ISBN 13 : 1421420740
Total Pages : 279 pages
Book Rating : 4.4/5 (214 download)

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Book Synopsis Life Histories of Genetic Disease by : Andrew J. Hogan

Download or read book Life Histories of Genetic Disease written by Andrew J. Hogan and published by JHU Press. This book was released on 2016-11 with total page 279 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

A Primer of Life Histories

Author : Jeffrey A. Hutchings
Publisher : Oxford University Press
ISBN 13 : 0192576259
Total Pages : 208 pages
Book Rating : 4.1/5 (925 download)

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Book Synopsis A Primer of Life Histories by : Jeffrey A. Hutchings

Download or read book A Primer of Life Histories written by Jeffrey A. Hutchings and published by Oxford University Press. This book was released on 2021-09-15 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Evolution in Four Dimensions, revised edition

Author : Eva Jablonka
Publisher : MIT Press
ISBN 13 : 0262525844
Total Pages : 577 pages
Book Rating : 4.2/5 (625 download)

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Book Synopsis Evolution in Four Dimensions, revised edition by : Eva Jablonka

Download or read book Evolution in Four Dimensions, revised edition written by Eva Jablonka and published by MIT Press. This book was released on 2014-03-21 with total page 577 pages. Available in PDF, EPUB and Kindle. Book excerpt: A pioneering proposal for a pluralistic extension of evolutionary theory, now updated to reflect the most recent research. This new edition of the widely read Evolution in Four Dimensions has been revised to reflect the spate of new discoveries in biology since the book was first published in 2005, offering corrections, an updated bibliography, and a substantial new chapter. Eva Jablonka and Marion Lamb's pioneering argument proposes that there is more to heredity than genes. They describe four “dimensions” in heredity—four inheritance systems that play a role in evolution: genetic, epigenetic (or non-DNA cellular transmission of traits), behavioral, and symbolic (transmission through language and other forms of symbolic communication). These systems, they argue, can all provide variations on which natural selection can act. Jablonka and Lamb present a richer, more complex view of evolution than that offered by the gene-based Modern Synthesis, arguing that induced and acquired changes also play a role. Their lucid and accessible text is accompanied by artist-physician Anna Zeligowski's lively drawings, which humorously and effectively illustrate the authors' points. Each chapter ends with a dialogue in which the authors refine their arguments against the vigorous skepticism of the fictional “I.M.” (for Ipcha Mistabra—Aramaic for “the opposite conjecture”). The extensive new chapter, presented engagingly as a dialogue with I.M., updates the information on each of the four dimensions—with special attention to the epigenetic, where there has been an explosion of new research. Praise for the first edition “With courage and verve, and in a style accessible to general readers, Jablonka and Lamb lay out some of the exciting new pathways of Darwinian evolution that have been uncovered by contemporary research.” —Evelyn Fox Keller, MIT, author of Making Sense of Life: Explaining Biological Development with Models, Metaphors, and Machines “In their beautifully written and impressively argued new book, Jablonka and Lamb show that the evidence from more than fifty years of molecular, behavioral and linguistic studies forces us to reevaluate our inherited understanding of evolution.” —Oren Harman, The New Republic “It is not only an enjoyable read, replete with ideas and facts of interest but it does the most valuable thing a book can do—it makes you think and reexamine your premises and long-held conclusions.” —Adam Wilkins, BioEssays

Signs and Symptoms of Genetic Conditions

Author : Louanne Hudgins
Publisher : Oxford University Press
ISBN 13 : 0199388695
Total Pages : 418 pages
Book Rating : 4.1/5 (993 download)

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Book Synopsis Signs and Symptoms of Genetic Conditions by : Louanne Hudgins

Download or read book Signs and Symptoms of Genetic Conditions written by Louanne Hudgins and published by Oxford University Press. This book was released on 2014-05-30 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Am I My Genes?

Author : Robert Klitzman
Publisher : OUP USA
ISBN 13 : 0199837163
Total Pages : 376 pages
Book Rating : 4.1/5 (998 download)

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Book Synopsis Am I My Genes? by : Robert Klitzman

Download or read book Am I My Genes? written by Robert Klitzman and published by OUP USA. This book was released on 2012-03 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this volume, the psychiatrist Robert Klitzman explores how individuals confront the complex issues associated with genetic testing in their daily lives.

Mapping Fate

Author : Alice Wexler
Publisher : Univ of California Press
ISBN 13 : 9780520207417
Total Pages : 354 pages
Book Rating : 4.2/5 (74 download)

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Book Synopsis Mapping Fate by : Alice Wexler

Download or read book Mapping Fate written by Alice Wexler and published by Univ of California Press. This book was released on 1996-12-30 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: Wexler tells the story of a family at risk for Huntington's disease, a hereditary, incurable, fatal disorder from which her own mother died. This graceful and eloquent account goes beyond the specifics of the disease to explore the dynamics of family secrets, of living at risk, and the drama and limits of biomedical research. Photos.

Breath from Salt

Author : Bijal P. Trivedi
Publisher : BenBella Books
ISBN 13 : 1948836629
Total Pages : 744 pages
Book Rating : 4.9/5 (488 download)

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Book Synopsis Breath from Salt by : Bijal P. Trivedi

Download or read book Breath from Salt written by Bijal P. Trivedi and published by BenBella Books. This book was released on 2020-09-08 with total page 744 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recommended by Bill Gates and included in GatesNotes "Elaborating on the science as well as the business behind the fight against cystic fibrosis, Trivedi captures the emotions of the families, doctors, and scientists involved in the clinical trials and their 'weeping with joy' as new drugs are approved, and shows how cystic fibrosis, once a 'death sentence,' became, for many, a manageable condition. This is a rewarding and challenging work." —Publishers Weekly Cystic fibrosis was once a mysterious disease that killed infants and children. Now it could be the key to healing millions with genetic diseases of every type—from Alzheimer's and Parkinson's to diabetes and sickle cell anemia. In 1974, Joey O'Donnell was born with strange symptoms. His insatiable appetite, incessant vomiting, and a relentless cough—which shook his tiny, fragile body and made it difficult to draw breath—confounded doctors and caused his parents agonizing, sleepless nights. After six sickly months, his salty skin provided the critical clue: he was one of thousands of Americans with cystic fibrosis, an inherited lung disorder that would most likely kill him before his first birthday. The gene and mutation responsible for CF were found in 1989—discoveries that promised to lead to a cure for kids like Joey. But treatments unexpectedly failed and CF was deemed incurable. It was only after the Cystic Fibrosis Foundation, a grassroots organization founded by parents, formed an unprecedented partnership with a fledgling biotech company that transformative leaps in drug development were harnessed to produce groundbreaking new treatments: pills that could fix the crippled protein at the root of this deadly disease. From science writer Bijal P. Trivedi, Breath from Salt chronicles the riveting saga of cystic fibrosis, from its ancient origins to its identification in the dank autopsy room of a hospital basement, and from the CF gene's celebrated status as one of the first human disease genes ever discovered to the groundbreaking targeted genetic therapies that now promise to cure it. Told from the perspectives of the patients, families, physicians, scientists, and philanthropists fighting on the front lines, Breath from Salt is a remarkable story of unlikely scientific and medical firsts, of setbacks and successes, and of people who refused to give up hope—and a fascinating peek into the future of genetics and medicine.

The Troubled Dream of Genetic Medicine

Author : Keith Wailoo
Publisher : JHU Press
ISBN 13 : 0801889367
Total Pages : 260 pages
Book Rating : 4.8/5 (18 download)

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Book Synopsis The Troubled Dream of Genetic Medicine by : Keith Wailoo

Download or read book The Troubled Dream of Genetic Medicine written by Keith Wailoo and published by JHU Press. This book was released on 2006-05-29 with total page 260 pages. Available in PDF, EPUB and Kindle. Book excerpt: Winner of the History of Science category of the Professional and Scholarly Publishing Awards given by the Association of American Publishers Why do racial and ethnic controversies become attached, as they often do, to discussions of modern genetics? How do theories about genetic difference become entangled with political debates about cultural and group differences in America? Such issues are a conspicuous part of the histories of three hereditary diseases: Tay-Sachs, commonly identified with Jewish Americans; cystic fibrosis, often labeled a "Caucasian" disease; and sickle cell disease, widely associated with African Americans. In this captivating account, historians Keith Wailoo and Stephen Pemberton reveal how these diseases—fraught with ethnic and racial meanings for many Americans—became objects of biological fascination and crucibles of social debate. Peering behind the headlines of breakthrough treatments and coming cures, they tell a complex story: about different kinds of suffering and faith, about unequal access to the promises and perils of modern medicine, and about how Americans consume innovation and how they come to believe in, or resist, the notion of imminent medical breakthroughs. With Tay-Sachs, cystic fibrosis, and sickle cell disease as a powerful backdrop, the authors provide a glimpse into a diverse America where racial ideologies, cultural politics, and conflicting beliefs about the power of genetics shape disparate health care expectations and experiences.

Genome

Author : Jerry E. Bishop
Publisher : Open Road Media
ISBN 13 : 1497607531
Total Pages : 365 pages
Book Rating : 4.4/5 (976 download)

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Book Synopsis Genome by : Jerry E. Bishop

Download or read book Genome written by Jerry E. Bishop and published by Open Road Media. This book was released on 2014-07-29 with total page 365 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.