one in a billion the story of nic volker and the dawn of genomic medicine

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One In A Billion

Author : Mark Johnson
ISBN : 1451661339
Genre : Biography & Autobiography
File Size : 47. 50 MB
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“A riveting scientific detective story” (The Washington Post) by two Pulitzer Prize–winning journalists who chronicle a young Wisconsin boy with a never-before-seen disease and the doctors who save his life by taking a new step into the future of medicine. In this landmark medical narrative, Pulitzer Prize-winning journalists Mark Johnson and Kathleen Gallagher share the story of Nic Volker, the first patient to be saved by a bold breakthrough in medicine—a complete gene sequencing, aimed at finding the cause of an otherwise undiagnosable illness. At just two years old, Nic experienced a brief flicker of pain that signaled the awakening of a new and deadly disease, one that would hurl him and his family into a harrowing journey in search for a lifesaving cure. After his symptoms stump every practitioner, it becomes clear that Nic’s is a one in a billion case, a disease that no one has ever seen before. As Nic and his family search for answers, the scientific community is racing to bring about the next revolution in medicine—translating results from the Human Genome Project to treatments for actual patients. At the forefront is the brilliant geneticist Howard Jacob, who starts a lab at the Medical College of Wisconsin. Then Nic’s head physician reaches out to Jacob with an unprecedented of idea. A disease like Nic’s is likely due to a rare mutation: if they could sequence his genes to try to find the mutation, the boy might live. Jacob doesn’t know if he can do it; Nic’s doctors don’t know if it will even work; and no one knows what else might lie in the Pandora’s Box of Nic’s genome. But they decide to try—and in doing so, they step into a new era of medicine. One in a Billion is “a compelling story of a modern medical miracle—the first instance of personalized medicine” (Milwaukee Journal Sentinel) and the birth of a scientific revolution.

One In A Billion

Author : Mark Johnson
ISBN : 9781451661347
Genre : Biography & Autobiography
File Size : 46. 61 MB
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The breathtaking story of a young boy with a never-before-seen disease, and the doctors who take a bold step into the future of medicine to save him—based on the authors’ Pulitzer Prize–winning reporting. In this landmark medical narrative, in the tradition of The Immortal Life of Henrietta Lacks and The Spirit Catches You and You Fall Down, Pulitzer Prize–winning journalists Mark Johnson and Kathleen Gallagher chronicle the story of Nic Volker, the Wisconsin boy at the center of a daring breakthrough in medicine—a complete gene sequencing to discover the cure for an otherwise undiagnosable illness. At just two years old, Nic experienced a searing pain that signaled the awakening of a new and deadly disease, one that would hurl Nic and his family up against the limits of modern medicine. For years, through false starts and failed cures, Nic holds on to life, buoyed up by his mother’s fierce drive to get him the care he needs. But when even the world’s experts are stumped by Nic’s illness, his doctors come up with a radical, long-shot plan: a step into the unknown. The next major scientific frontier, following the completion of the Human Genome Project, was to figure out how to use our new knowledge to save lives—to bring genomic or personalized medicine into reality. It’s a quest that is undertaken by researchers around the world. But it is only when geneticist Howard Jacob hears about young Nic that the finish line finally comes into sight: It’s no longer a race to make history. It’s a race to save this boy’s life. One in a Billion is an unforgettable tale of the lives that converged to launch a medical revolution. As pioneering geneticist Mary-Claire King pronounced upon learning Nic’s story: “It was as if one had heard about Case Zero of AIDS and the cure, all at once.”

One In A Billion

Author : Kathleen Gallagher
ISBN : 9781451661323
Genre : Biography & Autobiography
File Size : 83. 37 MB
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The breathtaking story of a young boy with a never-before-seen disease, and the doctors who take a bold step into the future of medicine to save him—based on the authors’ Pulitzer Prize–winning reporting. In this landmark medical narrative, in the tradition of The Immortal Life of Henrietta Lacks and The Spirit Catches You and You Fall Down, Pulitzer Prize–winning journalists Mark Johnson and Kathleen Gallagher chronicle the story of Nic Volker, the Wisconsin boy at the center of a daring breakthrough in medicine—a complete gene sequencing to discover the cure for an otherwise undiagnosable illness. At just two years old, Nic experienced a searing pain that signaled the awakening of a new and deadly disease, one that would hurl Nic and his family up against the limits of modern medicine. For years, through false starts and failed cures, Nic holds on to life, buoyed up by his mother’s fierce drive to get him the care he needs. But when even the world’s experts are stumped by Nic’s illness, his doctors come up with a radical, long-shot plan: a step into the unknown. The next major scientific frontier, following the completion of the Human Genome Project, was to figure out how to use our new knowledge to save lives—to bring genomic or personalized medicine into reality. It’s a quest that is undertaken by researchers around the world. But it is only when geneticist Howard Jacob hears about young Nic that the finish line finally comes into sight: It’s no longer a race to make history. It’s a race to save this boy’s life. One in a Billion is an unforgettable tale of the lives that converged to launch a medical revolution. As pioneering geneticist Mary-Claire King pronounced upon learning Nic’s story: “It was as if one had heard about Case Zero of AIDS and the cure, all at once.”

The Age Of Genomes

Author : Steven Monroe Lipkin
ISBN : 080700877X
Genre : Medical
File Size : 38. 21 MB
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A leading geneticist explores what promises to be one of the most transformative advances in health and medicine in history Almost every week, another exciting headline appears about new advances in the field of genetics. Genetic testing is experiencing the kind of exponential growth once seen with the birth of the Internet, while the plummeting cost of DNA sequencing makes it increasingly accessible for individuals and families. Steven Lipkin and Jon Luoma posit that today's genomics is like the last century's nuclear physics: a powerful tool for good if used correctly, but potentially dangerous nonetheless. DNA testing is likely the most exciting advance in a long time for treating serious disease, but sequencing errors, complex biology, and problems properly interpreting genetic data can also cause life-threatening misdiagnoses of patients with debilitating and fatal genetic diseases. DNA testing can also lead to unnecessary procedures and significantly higher health-care costs. And just around the corner is the ability to cure genetic diseases using powerful gene-editing technologies that are already being used in human embryo research. Welcome to the Age of Genomes! The Age of Genomes immerses readers in true stories of patients on the frontier of genomic medicine and explores both the transformative potential and risks of genetic technology. It will inform anxious parents increasingly bombarded by offers of costly new prenatal testing products, and demonstrate how genetic technology, when deployed properly, can significantly improve the lives of patients who have devastating neurological diseases, cancer, and other maladies. Dr. Lipkin explains the science in depth, but in terms a layperson can follow.

The Answer To The Riddle Is Me

Author : David MacLean
ISBN : 9780547519272
Genre : Biography & Autobiography
File Size : 34. 8 MB
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The author describes his experience waking up in a train station in India with no idea who or where he was, being put into a mental institution and the eventual discovery that his symptoms were caused by a common malaria medication. 30,000 first printing.

The Inheritance

Author : Niki Kapsambelis
ISBN : 1451697228
Genre : Biography & Autobiography
File Size : 65. 15 MB
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An inspiring race against time: The courageous, hopeful story of the one family who may hold the key to finding a cure for Alzheimer’s disease. Every sixty-nine seconds, someone is diagnosed with Alzheimer’s disease. Of the top ten killers, it is the only disease for which there is no cure or treatment. For most people, there is nothing that they can do to fight back. But one family is doing all they can. The DeMoe family has the most devastating form of the disease that there is: early onset Alzheimer’s, an inherited genetic mutation that causes the disease in 100 percent of cases, and has a 50 percent chance of being passed onto the next generation. Of the six DeMoe children whose father had it, five have inherited the gene; the sixth, Karla, has inherited responsibility for all of them. But rather than give up in the face of such news, the DeMoes have agreed to spend their precious, abbreviated years as part of a worldwide study that could utterly change the landscape of Alzheimer’s research and offers the brightest hope for future treatments—and possibly a cure. Drawing from several years of in-depth research with this charming and upbeat family, journalist Niki Kapsambelis tells the story of Alzheimer’s through the humanizing lens of these ordinary people made extraordinary by both their terrible circumstances and their bravery. Their tale is intertwined with the dramatic narrative history of the disease, the cutting-edge research that brings us ever closer to a possible cure, and the accounts of the extraordinary doctors spearheading these groundbreaking studies. From the oil fields of North Dakota to the jungles of Colombia, this incredible narrative redefines courage in the face of one of the most pervasive and mysterious pandemics of our time.

The Meaning Of The Body

Author : Mark Johnson
ISBN : 9780226401935
Genre : Philosophy
File Size : 42. 6 MB
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The belief that the mind and the body are separate and that the mind is the source of all meaning has been a part of Western culture for centuries. Both philosophers and scientists have questioned this dualism, but their efforts have rarely converged. Many philosophers continue to rely on disembodied models of human thought, while scientists tend to reduce the complex process of thinking to a merely physical phenomenon. In this book, the author continues his pioneering work on the connections between cognitive science, language, and meaning first begun in the classic Metaphors We Live By. Johnson uses recent research into infant psychology to show how the body generates meaning even before self-consciousness has fully developed. From there he turns to cognitive neuroscience to further explore the bodily origins of meaning, thought, and language and examines the many dimensions of meaning--including images, qualities, emotions, and metaphors--that are all rooted in the body's physical encounters with the world. Drawing on the psychology of art and pragmatist philosophy, Johnson argues that all of these aspects of meaning-making are fundamentally aesthetic. Thus the arts are the culmination of human attempts to find meaning and studying the aesthetic dimensions of our experience is crucial to unlocking the bodily sources of meaning.--From publisher description.

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