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 : 9781451661330
Genre : Biography & Autobiography
File Size : 45. 93 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 : Kathleen Gallagher
ISBN : 9781451661323
Genre : Biography & Autobiography
File Size : 65. 44 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 : Mark Johnson
ISBN : 9781451661347
Genre : Biography & Autobiography
File Size : 43. 80 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.

The Age Of Genomes

Author : Steven Monroe Lipkin
ISBN : 9780807074572
Genre :
File Size : 50. 90 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.

A Cancer In The Family

Author : Theodora Ross, MD, PhD
ISBN : 9780698197893
Genre : Health & Fitness
File Size : 57. 51 MB
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A Kirkus Best Book of 2016 Oncologist and cancer gene hunter Theo Ross delivers the first authoritative, go-to for people facing a genetic predisposition for cancer There are 13 million people with cancer in the United States, and it’s estimated that about 1.3 million of these cases are hereditary. Yet despite advanced training in cancer genetics and years of practicing medicine, Dr. Theo Ross was never certain whether the history of cancers in her family was simple bad luck or a sign that they were carriers of a cancer-causing genetic mutation. Then she was diagnosed with melanoma, and for someone with a dark complexion, melanoma made no sense. It turned out there was a genetic factor at work. Using her own family’s story, the latest science of cancer genetics, and her experience as a practicing physician, Ross shows readers how to spot the patterns of inherited cancer, how to get tested for cancer-causing genes, and what to do if you have one. With a foreword by Siddartha Mukherjee, prize winning author of The Emperor of All Maladies, this will be the first authoritative, go-to for people facing inherited cancer, this book empowers readers to face their genetic heritage without fear and to make decisions that will keep them and their families healthy.

Herding Hemingway S Cats

Author : Kat Arney
ISBN : 9781472910066
Genre : Science
File Size : 46. 38 MB
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The language of genes has become common parlance. We know they make your eyes blue, your hair curly or your nose straight. The media tells us that our genes control the risk of cancer, heart disease, alcoholism or Alzheimer's. The cost of DNA sequencing has plummeted from billions of pounds to a few hundred, and gene-based advances in medicine hold huge promise. So we've all heard of genes, but how do they actually work? There are 2.2 metres of DNA inside every one of your cells, encoding roughly 20,000 genes. These are the 'recipes' that tell our cells how to make the building blocks of life, along with myriad control switches ensuring they're turned on and off at the right time and in the right place. But rather than a static string of genetic code, this is a dynamic, writhing biological library. Figuring out how it all works Â? how your genes build your body Â? is a major challenge for researchers around the world. And what they're discovering is that far from genes being a fixed, deterministic blueprint, things are much more random and wobbly than anyone expected. Drawing on stories ranging from six toed cats and stickleback hips to Mickey Mouse mice and zombie genes Â? told by researchers working at the cutting edge of genetics Â? Kat Arney explores the mysteries in our genomes with clarity, flair and wit, creating a companion reader to the book of life itself.

Mercies In Disguise

Author : Gina Kolata
ISBN : 9781250123992
Genre : Medical
File Size : 23. 60 MB
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"...a moving, suspenseful page-turner that's likely to become a classic of medical storytelling." —The Washington Post 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.

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