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The Family Gene

Author: Joselin Linder

Publisher: HarperCollins

Published: 2017-03-14

Total Pages: 245

ISBN-13: 0062378929

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 Gene

Author: Siddhartha Mukherjee

Publisher: Simon and Schuster

Published: 2016-05-17

Total Pages: 624

ISBN-13: 1476733538

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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 Practical Guide to the Genetic Family History

Author: Robin L. Bennett

Publisher: John Wiley & Sons

Published: 2011-09-20

Total Pages: 389

ISBN-13: 1118209818

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HELPS YOU DEVELOP AND ASSESS PEDIGREES TO MAKE DIAGNOSES, EVALUATE RISK, AND COUNSEL PATIENTS The Second Edition of The Practical Guide to the Genetic Family History not only shows how to take a medical-family history and record a pedigree, but also explains why each bit of information gathered is important. It provides essential support in diagnosing conditions with a genetic component. Moreover, it aids in recommending genetic testing, referring patients for genetic counseling, determining patterns of inheritance, calculating risk of disease, making decisions for medical management and surveillance, and informing and educating patients. Based on the author's twenty-five years as a genetic counselor, the book also helps readers deal with the psychological, social, cultural, and ethical problems that arise in gathering a medical-family history and sharing findings with patients. Featuring a new Foreword by Arno Motulsky, widely recognized as the founder of medical genetics, and completely updated to reflect the most recent findings in genetic medicine, this Second Edition presents the latest information and methods for preparing and assessing a pedigree, including: Value and utility of a thorough medical-family history Directed questions to ask when developing a medical-family history for specific disease conditions Use of pedigrees to identify individuals with an increased susceptibility to cancer Verification of family medical information Special considerations when adoptions or gamete donors are involved Ethical issues that may arise in recording a pedigree Throughout the book, clinical examples based on hypothetical families illustrate key concepts, helping readers understand how real issues present themselves and how they can be resolved. This book will enable all healthcare providers, including physicians, nurses, medical social workers, and physician assistants, as well as genetic counselors, to take full advantage of the pedigree as a primary tool for making a genetic risk assessment and providing counseling for patients and their families.

Mercies in Disguise

Author: Gina Kolata

Publisher: Macmillan + ORM

Published: 2017-03-21

Total Pages: 217

ISBN-13: 1250123992

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"[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 Explorer Gene

Author: Tom Cheshire

Publisher: Simon and Schuster

Published: 2013-12-03

Total Pages: 320

ISBN-13: 147673027X

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Originally published: Great Britain: Short Books, 2013.

Queen Victoria's Gene

Author: D M Potts

Publisher: The History Press

Published: 2011-10-21

Total Pages: 166

ISBN-13: 0752471961

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Queen Victoria's son, Prince Leopold, died from haemophilia, but no member of the royal family before his generation had suffered from the condition. Medically, there are only two possibilities: either one of Victoria's parents had a 1 in 50,000 random mutation, or Victoria was the illegitimate child of a haemophiliac man. However the haemophilia gene arose, it had a profound effect on history. Two of Victoria's daughters were silent carriers who passed the disease to the Spanish and Russian royal families. The disease played a role in the origin of the Spanish Civil War; and the tsarina's concern over her only son's haemophilia led to the entry of Rasputin into the royal household, contributing directly to the Russian revolution.

Family Vocation

Author: Gene Edward Veith Jr.

Publisher: Crossway

Published: 2012-02-29

Total Pages: 258

ISBN-13: 1433524090

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What does it mean to be called as a husband, a wife, a parent, a child? How does the grace of the gospel impact how we carry out our particular calling? How does God's presence influence the struggles that families face? Gene Veith joins forces with his daughter Mary Moerbe to explore these kinds of questions as well as the roles of calling and vocation in family life. Though we have little control over who is in our family (other than choosing a spouse and deciding to have children), God has placed us with specific people for specific reasons. Veith and Moerbe show how our roles are distinct and important to God's plan for our lives—and that when we have a biblical understanding of those roles in our families, we can move away from common dysfunctions and toward forgiveness and healing. Writing with sensitivity and wisdom, Veith and Moerbe address the common problems facing contemporary families: the crosses, the weaknesses, and the uncertainties. They articulate a compelling, biblical paradigm for creating and sustaining loving and forgiving families who maintain hope in the face of cultural pressure. This book is an important resource for all Christians, including pastors, counselors, and those working in family ministry.

The Selfish Gene

Author: Richard Dawkins

Publisher: Oxford University Press, USA

Published: 1989

Total Pages: 372

ISBN-13: 9780192860927

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Science need not be dull and bogged down by jargon, as Richard Dawkins proves in this entertaining look at evolution. The themes he takes up are the concepts of altruistic and selfish behaviour; the genetical definition of selfish interest; the evolution of aggressive behaviour; kinshiptheory; sex ratio theory; reciprocal altruism; deceit; and the natural selection of sex differences. 'Should be read, can be read by almost anyone. It describes with great skill a new face of the theory of evolution.' W.D. Hamilton, Science

The Inheritance

Author: Niki Kapsambelis

Publisher: Simon and Schuster

Published: 2017-03-07

Total Pages: 368

ISBN-13: 1451697333

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This gripping story of the doctors at the forefront of Alzheimer’s research and the courageous North Dakota family whose rare genetic code is helping to understand our most feared diseases is “excellent, accessible...A science text that reads like a mystery and treats its subjects with humanity and sympathy” (Library Journal, starred review). 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 one hundred percent of cases, and has a fifty 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, daughter 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. “A compelling narrative…and an educational and emotional chronicle” (Kirkus Reviews, starred review), 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 inspiring race against time redefines courage in the face of this most pervasive and mysterious disease.

The Carriers

Author: Anne Skomorowsky

Publisher: Columbia University Press

Published: 2022-05-03

Total Pages: 118

ISBN-13: 0231552289

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A tiny mutation on the X chromosome can shape a family’s history. Passed down from a “carrier” parent to a child, fragile X syndrome is the most common inherited cause of intellectual disability and autism. Beyond that—and a rarity among genetic disorders—some fragile X carriers not only transmit the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome—and all too often, they suffer in silence. The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics. She interweaves the personal narratives and family histories of the people affected by fragile X disorders with clear and accessible explanations of the science behind them. Skomorowsky unpacks the latest research on the fragile X mutation and explores the history of its discovery. She highlights the roles of women as carriers, caregivers, and researchers who have made astonishing scientific breakthroughs over the last three decades. The Carriers is an essential book for fragile X families, including those just learning they are carriers, and for all readers interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality.