The Family Gene

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The Family Gene

Joselin Linder
The Family Gene Book PDF

Author : Joselin Linder
Publisher : HarperCollins
Page : 245 pages
File Size : 49,5 Mb
Release : 2017-03-14
Category : Biography & Autobiography
ISBN : 9780062378927

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The Family Gene by Joselin Linder Pdf

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

Siddhartha Mukherjee
The Gene Book PDF

Author : Siddhartha Mukherjee
Publisher : Simon and Schuster
Page : 624 pages
File Size : 47,8 Mb
Release : 2016-05-17
Category : Medical
ISBN : 9781476733531

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The Gene by Siddhartha Mukherjee Pdf

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).

Mercies in Disguise

Gina Kolata
Mercies in Disguise Book PDF

Author : Gina Kolata
Publisher : Macmillan + ORM
Page : 217 pages
File Size : 49,9 Mb
Release : 2017-03-21
Category : Medical
ISBN : 9781250123992

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Mercies in Disguise by Gina Kolata Pdf

"[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 Selfish Gene

Richard Dawkins
The Selfish Gene Book PDF

Author : Richard Dawkins
Publisher : Oxford University Press, USA
Page : 372 pages
File Size : 45,5 Mb
Release : 1989
Category : Medical
ISBN : 0192860925

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The Selfish Gene by Richard Dawkins Pdf

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 Explorer Gene

Tom Cheshire
The Explorer Gene Book PDF

Author : Tom Cheshire
Publisher : Simon and Schuster
Page : 320 pages
File Size : 50,8 Mb
Release : 2013-12-03
Category : Biography & Autobiography
ISBN : 9781476730271

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The Explorer Gene by Tom Cheshire Pdf

Originally published: Great Britain: Short Books, 2013.

Queen Victoria's Gene

D M Potts,W T W Potts
Queen Victoria s Gene Book PDF

Author : D M Potts,W T W Potts
Publisher : The History Press
Page : 166 pages
File Size : 45,5 Mb
Release : 2011-10-21
Category : History
ISBN : 9780752471969

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Queen Victoria's Gene by D M Potts,W T W Potts Pdf

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

Gene Edward Veith Jr.,Mary J. Moerbe
Family Vocation Book PDF

Author : Gene Edward Veith Jr.,Mary J. Moerbe
Publisher : Crossway
Page : 258 pages
File Size : 44,9 Mb
Release : 2012-02-29
Category : Religion
ISBN : 9781433524097

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Family Vocation by Gene Edward Veith Jr.,Mary J. Moerbe Pdf

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 Carriers

Anne Skomorowsky
The Carriers Book PDF

Author : Anne Skomorowsky
Publisher : Columbia University Press
Page : 118 pages
File Size : 43,9 Mb
Release : 2022-05-03
Category : Medical
ISBN : 9780231552288

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The Carriers by Anne Skomorowsky Pdf

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.

Hidden Valley Road

Robert Kolker
Hidden Valley Road Book PDF

Author : Robert Kolker
Publisher : Random House Canada
Page : 433 pages
File Size : 50,6 Mb
Release : 2020-04-07
Category : Psychology
ISBN : 9780735274464

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Hidden Valley Road by Robert Kolker Pdf

OPRAH'S BOOK CLUB PICK #1 NEW YORK TIMES BESTSELLER NATIONAL BESTSELLER The heartrending story of a mid-century American family with twelve children, six of them diagnosed with schizophrenia, that became science's great hope in the quest to understand--even cure--the disease. Don and Mimi Galvin seemed to be living the dream. After World War II, Don's work with the US Air Force brought them to Colorado, where their twelve children perfectly spanned the baby boom: the oldest born in 1945, the youngest in 1965. In those years there was an established script for a family like the Galvins--aspiration, hard work, upward mobility, domestic harmony--and they worked hard to play their parts. But behind the scenes was a different story: psychological breakdown, sudden shocking violence, hidden abuse. By the mid-1970s, six of the ten Galvin boys were diagnosed as schizophrenic. How could all this happen in one family? What took place inside the house on Hidden Valley Road was so extraordinary that the Galvins became one of the first families to be studied by the National Institutes of Mental Health. Their shocking story also offers a shadow history of the science of schizophrenia, from the era of institutionalization, lobotomy and the premise of the schizophrenogenic mother, to the search for genetic markers for the disease, always amidst profound disagreements about the nature of the illness itself. Unknown to the Galvins, samples of their DNA informed decades of genetic research that continues today, offering paths to treatment and even the possibility of the eradication of the disease for future generations. With clarity and compassion, bestselling and award-winning author Robert Kolker uncovers one family's unforgettable legacy of suffering, love and hope.

The Genetics of Cancer

B.A. Ponder,M.J. Waring
The Genetics of Cancer Book PDF

Author : B.A. Ponder,M.J. Waring
Publisher : Springer Science & Business Media
Page : 222 pages
File Size : 47,8 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9789401106771

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The Genetics of Cancer by B.A. Ponder,M.J. Waring Pdf

It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.

The Selfish Gene

Richard Dawkins
The Selfish Gene Book PDF

Author : Richard Dawkins
Publisher : Oxford University Press
Page : 544 pages
File Size : 41,6 Mb
Release : 2016-05-26
Category : Science
ISBN : 9780191093067

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The Selfish Gene by Richard Dawkins Pdf

The million copy international bestseller, critically acclaimed and translated into over 25 languages. As influential today as when it was first published, The Selfish Gene has become a classic exposition of evolutionary thought. Professor Dawkins articulates a gene's eye view of evolution - a view giving centre stage to these persistent units of information, and in which organisms can be seen as vehicles for their replication. This imaginative, powerful, and stylistically brilliant work not only brought the insights of Neo-Darwinism to a wide audience, but galvanized the biology community, generating much debate and stimulating whole new areas of research. Forty years later, its insights remain as relevant today as on the day it was published. This 40th anniversary edition includes a new epilogue from the author discussing the continuing relevance of these ideas in evolutionary biology today, as well as the original prefaces and foreword, and extracts from early reviews. Oxford Landmark Science books are 'must-read' classics of modern science writing which have crystallized big ideas, and shaped the way we think.

The Gene Book

Sarah Adelaide Crawford
The Gene Book Book PDF

Author : Sarah Adelaide Crawford
Publisher : Cognella Academic Publishing
Page : 128 pages
File Size : 49,8 Mb
Release : 2018-06-28
Category : Electronic
ISBN : 1516545249

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The Gene Book by Sarah Adelaide Crawford Pdf

The Gene Book: Explorations in the Code of Life is designed to introduce undergraduate college students to foundational concepts in genetics. The text provides in-depth coverage of the essential principles of genetics, from Mendel to molecular gene therapy, and reads like a story, guiding readers through each of these areas in an interesting, engaging, and enlightening way. Milestone scientific discoveries introduce conceptual topics in each of the 10 chapters. The significance of each genetics paradigm is reinforced by the meaningful research context in which it is placed, whether the focus is single gene inheritance of disorders such as PKU and cystic fibrosis, or more complex genetic phenomena. Chromosomes, cell division, and cytogenetic disorders, including Down Syndrome and leukemia, are presented in a riveting historical context. In addition, the principles of molecular genetics are a major focus of this book. Students learn about the double helix, DNA replication, gene expression, mutation, natural selection, genomics, and the tools of molecular DNA analysis. Approachable and effective, The Gene Book is a highly readable comprehensive text on genetics principles designed to highlight essential concepts that make up their very core. The text is well suited to undergraduate genetics courses and can also be used as a primer for more advanced undergraduate and graduate courses in medical or molecular genetics.

Random Families

Rosanna Hertz,Margaret K. Nelson
Random Families Book PDF

Author : Rosanna Hertz,Margaret K. Nelson
Publisher : Oxford University Press, USA
Page : 313 pages
File Size : 54,5 Mb
Release : 2018-11-16
Category : Family & Relationships
ISBN : 9780190888275

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Random Families by Rosanna Hertz,Margaret K. Nelson Pdf

"The ready availability of donated sperm and eggs has made possible an entirely new form of family. Children of the same donor and their families, with the help of the internet, can now locate each other and make contact. Sometimes this network of families form meaningful connections that blossom into longstanding groups, and close friendships. This book is about unprecedented families that have grown up at the intersection of new reproductive technologies, social media and the human desire for belonging. Random Families asks: Do shared genes make you a family? What do couples do when they discover that their children shares half their DNA with a dozen or more other offspring from the same sperm donor? What do kids find in common with their donor siblings? What becomes of these chance networks once parents and donor siblings find one another? Based on over 350 interviews with children (ages 10-28) and their parents from all over the U.S., Random Families chronicles the chain of choices that couples and single mothers make from what donor to use to how to participate (or not) in donor sibling networks. Children reveal their understanding of a donor, the donor's spot on the family tree and the meaning of their donor siblings. Through rich first-person accounts of network membership, the book illustrates how these extraordinary relationships -- woven from bits of online information and shared genetic ties -- are transformed into new possibilities for kinship. Random Families offers down-to-earth stories from real families to highlight just how truly distinctive these contemporary new forms of family are." -- Publisher's description

Medical Genetics

G. Bradley Schaefer,Thompson Jr.
Medical Genetics Book PDF

Author : G. Bradley Schaefer,Thompson Jr.
Publisher : McGraw Hill Professional
Page : 452 pages
File Size : 51,6 Mb
Release : 2013-11-22
Category : Medical
ISBN : 9780071819282

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Medical Genetics by G. Bradley Schaefer,Thompson Jr. Pdf

A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Breath from Salt

Bijal P. Trivedi
Breath from Salt Book PDF

Author : Bijal P. Trivedi
Publisher : BenBella Books
Page : 744 pages
File Size : 45,9 Mb
Release : 2020-09-08
Category : Medical
ISBN : 9781948836623

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Breath from Salt by Bijal P. Trivedi Pdf

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.