Living With Genetic Disorder

Download Living With Genetic Disorder full books in PDF, epub, and Kindle. Read online Living With Genetic Disorder ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!

Mercies in Disguise

Author : Gina Kolata
Publisher : Macmillan + ORM
ISBN 13 : 1250123992
Total Pages : 217 pages
Book Rating : 4.2/5 (51 download)

DOWNLOAD NOW!

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 217 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)

DOWNLOAD NOW!

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.

An Ordinary Day

Author : Karen Haberberg
Publisher : powerHouse Books
ISBN 13 : 9781576878613
Total Pages : 0 pages
Book Rating : 4.8/5 (786 download)

DOWNLOAD NOW!

Book Synopsis An Ordinary Day by : Karen Haberberg

Download or read book An Ordinary Day written by Karen Haberberg and published by powerHouse Books. This book was released on 2017-10-24 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: An Ordinary Day is a documentation of the personal lives of courageous kids who have rare genetic conditions and their families who love and support them at all cost. 1 in 10 Americans are living with a rare genetic condition. The conditions that rule the lives of these families are often overlooked by society, but for millions of people it is a matter of foremost priority. This book sheds an important and compassionate light on these existences. Life often presents challenges that seem insurmountable. Children are not exempt from this, but often through their innocence and will we can find inspiration and hope. An Ordinary Day displays unforgettable photographs set against intimate conversations, documenting the lives of 27 children living with rare genetic conditions. Readers will fall in love with these children, share in their struggles and victories, and celebrate the life-affirming spirit captured in every image. The book invites us to connect with kids like Ethan, a nonverbal 7-year-old who learns to sign to communicate his needs, 5-year-old Madison who has taken her first steps after years of crawling, and Jonathan, a 9-year-old boy who finally learns to eat with a spoon after many failed trials. Tasks often taken for granted, are profound triumphs for children afflicted with rare genetic conditions. The every day moments captured in An Ordinary Day inspire awareness and empathy, while highlighting the commonalities between families with rare genetic conditions, and more deeply between us all. Poignant and revelatory, An Ordinary Day illuminates what it means to be a family.

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)

DOWNLOAD NOW!

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.

The Genetics of Cancer

Author : B.A. Ponder
Publisher : Springer Science & Business Media
ISBN 13 : 9401106770
Total Pages : 222 pages
Book Rating : 4.4/5 (11 download)

DOWNLOAD NOW!

Book Synopsis The Genetics of Cancer by : B.A. Ponder

Download or read book The Genetics of Cancer written by B.A. Ponder and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 222 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Understanding Racial and Ethnic Differences in Health in Late Life

Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309165865
Total Pages : 184 pages
Book Rating : 4.3/5 (91 download)

DOWNLOAD NOW!

Book Synopsis Understanding Racial and Ethnic Differences in Health in Late Life by : National Research Council

Download or read book Understanding Racial and Ethnic Differences in Health in Late Life written by National Research Council and published by National Academies Press. This book was released on 2004-09-08 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: As the population of older Americans grows, it is becoming more racially and ethnically diverse. Differences in health by racial and ethnic status could be increasingly consequential for health policy and programs. Such differences are not simply a matter of education or ability to pay for health care. For instance, Asian Americans and Hispanics appear to be in better health, on a number of indicators, than White Americans, despite, on average, lower socioeconomic status. The reasons are complex, including possible roles for such factors as selective migration, risk behaviors, exposure to various stressors, patient attitudes, and geographic variation in health care. This volume, produced by a multidisciplinary panel, considers such possible explanations for racial and ethnic health differentials within an integrated framework. It provides a concise summary of available research and lays out a research agenda to address the many uncertainties in current knowledge. It recommends, for instance, looking at health differentials across the life course and deciphering the links between factors presumably producing differentials and biopsychosocial mechanisms that lead to impaired health.

Rare Diseases and Orphan Products

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309158060
Total Pages : 442 pages
Book Rating : 4.3/5 (91 download)

DOWNLOAD NOW!

Book Synopsis Rare Diseases and Orphan Products by : Institute of Medicine

Download or read book Rare Diseases and Orphan Products written by Institute of Medicine and published by National Academies Press. This book was released on 2011-04-03 with total page 442 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.

EBMT HANDBOOK

Author :
Publisher :
ISBN 13 : 9783031440823
Total Pages : 0 pages
Book Rating : 4.4/5 (48 download)

DOWNLOAD NOW!

Book Synopsis EBMT HANDBOOK by :

Download or read book EBMT HANDBOOK written by and published by . This book was released on 2025 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Heritable Human Genome Editing

Author : The Royal Society
Publisher : National Academies Press
ISBN 13 : 0309671132
Total Pages : 239 pages
Book Rating : 4.3/5 (96 download)

DOWNLOAD NOW!

Book Synopsis Heritable Human Genome Editing by : The Royal Society

Download or read book Heritable Human Genome Editing written by The Royal Society and published by National Academies Press. This book was released on 2021-01-16 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.

The Genetics of African Populations in Health and Disease

Author : Muntaser E. Ibrahim
Publisher : Cambridge University Press
ISBN 13 : 1107072026
Total Pages : 351 pages
Book Rating : 4.1/5 (7 download)

DOWNLOAD NOW!

Book Synopsis The Genetics of African Populations in Health and Disease by : Muntaser E. Ibrahim

Download or read book The Genetics of African Populations in Health and Disease written by Muntaser E. Ibrahim and published by Cambridge University Press. This book was released on 2019-12-19 with total page 351 pages. Available in PDF, EPUB and Kindle. Book excerpt: A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.

Rare Genetic Diseases

Author : Theodore F. Thurmon
Publisher :
ISBN 13 :
Total Pages : 218 pages
Book Rating : 4.3/5 (91 download)

DOWNLOAD NOW!

Book Synopsis Rare Genetic Diseases by : Theodore F. Thurmon

Download or read book Rare Genetic Diseases written by Theodore F. Thurmon and published by . This book was released on 1974 with total page 218 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Genomics of Rare Diseases

Author : Claudia Gonzaga-Jauregui
Publisher : Academic Press
ISBN 13 : 0128204362
Total Pages : 318 pages
Book Rating : 4.1/5 (282 download)

DOWNLOAD NOW!

Book Synopsis Genomics of Rare Diseases by : Claudia Gonzaga-Jauregui

Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians

Living with Our Genes

Author : Dean H. Hamer
Publisher : Anchor
ISBN 13 : 0385485840
Total Pages : 369 pages
Book Rating : 4.3/5 (854 download)

DOWNLOAD NOW!

Book Synopsis Living with Our Genes by : Dean H. Hamer

Download or read book Living with Our Genes written by Dean H. Hamer and published by Anchor. This book was released on 1999-02-16 with total page 369 pages. Available in PDF, EPUB and Kindle. Book excerpt: "A lucid, thought-provoking account of the case for 'nature' as a determinant of personality."—Peter D. Kramer, Author of Listening to Prozac and Should You Leave? Nowhere is the nature-nurture controversy being more arduously tested than in the labs of world-renowned molecular scientist Dean Hamer, whose cutting-edge research has indisputably linked specific genes to behavioral traits, such as anxiety, thrill-seeking, and homosexuality. The culmination of that research is this provocative book, Living with Our Genes. In it, Dr. Hamer reveals that much of our behavior—how much we eat and weigh, whether we drink or use drugs, how often we have sex—is heavily influenced by genes. His findings help explain why one brother becomes a Wall Street trader, while his sibling remains content as a librarian, or why some people like to bungee-jump, while others prefer Scrabble. Dr. Hamer also sheds light on some of the most compelling and vexing aspects of personality, such as shyness, aggression, depression, and intelligence. In the tradition of the bestselling book Listening to Prozac, Living with Our Genes is the first comprehensive investigation of the crucial link between our DNA and our behavior. "Compulsive reading, reminiscent of Jared Diamond, from a scientist who knows his stuff and communicates it well."—Kirkus Reviews "A pioneer in the field of molecular psychology, Hamer is exploring the role genes play in governing the very core of our individuality. Accessible . . . provocative."—Time "Absolutely terrific! I couldn't put it down."—Professor Robert Plomin, Social, Genetic & Developmental Psychiatry Research Center, Institute of Psychiatry

Critical Perspectives on Racial and Ethnic Differences in Health in Late Life

Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309092116
Total Pages : 753 pages
Book Rating : 4.3/5 (9 download)

DOWNLOAD NOW!

Book Synopsis Critical Perspectives on Racial and Ethnic Differences in Health in Late Life by : National Research Council

Download or read book Critical Perspectives on Racial and Ethnic Differences in Health in Late Life written by National Research Council and published by National Academies Press. This book was released on 2004-10-16 with total page 753 pages. Available in PDF, EPUB and Kindle. Book excerpt: In their later years, Americans of different racial and ethnic backgrounds are not in equally good-or equally poor-health. There is wide variation, but on average older Whites are healthier than older Blacks and tend to outlive them. But Whites tend to be in poorer health than Hispanics and Asian Americans. This volume documents the differentials and considers possible explanations. Selection processes play a role: selective migration, for instance, or selective survival to advanced ages. Health differentials originate early in life, possibly even before birth, and are affected by events and experiences throughout the life course. Differences in socioeconomic status, risk behavior, social relations, and health care all play a role. Separate chapters consider the contribution of such factors and the biopsychosocial mechanisms that link them to health. This volume provides the empirical evidence for the research agenda provided in the separate report of the Panel on Race, Ethnicity, and Health in Later Life.

Biochemical and Molecular Basis of Pediatric Disease

Author : Edward C.C. Wong
Publisher : Academic Press
ISBN 13 : 0128179635
Total Pages : 1172 pages
Book Rating : 4.1/5 (281 download)

DOWNLOAD NOW!

Book Synopsis Biochemical and Molecular Basis of Pediatric Disease by : Edward C.C. Wong

Download or read book Biochemical and Molecular Basis of Pediatric Disease written by Edward C.C. Wong and published by Academic Press. This book was released on 2021-05-13 with total page 1172 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases. - Provides a fully-updated resource with more color illustrations - Focuses on the biochemical and molecular basis of disease as well as the analytical techniques - Defines important differences in the pathophysiology of diseases, comparing childhood with adult

Hidden Valley Road

Author : Robert Kolker
Publisher : Anchor
ISBN 13 : 0385543778
Total Pages : 427 pages
Book Rating : 4.3/5 (855 download)

DOWNLOAD NOW!

Book Synopsis Hidden Valley Road by : Robert Kolker

Download or read book Hidden Valley Road written by Robert Kolker and published by Anchor. This book was released on 2020-04-07 with total page 427 pages. Available in PDF, EPUB and Kindle. Book excerpt: #1 NEW YORK TIMES BESTSELLER • OPRAH’S BOOK CLUB PICK • ONE OF GQ's TOP 50 BOOKS OF LITERARY JOURNALISM IN THE 21st CENTURY • The heartrending story of a midcentury American family with twelve children, six of them diagnosed with schizophrenia, that became science's great hope in the quest to understand the disease. "Reads like a medical detective journey and sheds light on a topic so many of us face: mental illness." —Oprah Winfrey Don and Mimi Galvin seemed to be living the American dream. After World War II, Don's work with the 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, one after another, were diagnosed as schizophrenic. How could all this happen to 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 Institute of Mental Health. Their story offers a shadow history of the science of schizophrenia, from the era of institutionalization, lobotomy, and the schizophrenogenic mother to the search for genetic markers for the disease, always amid profound disagreements about the nature of the illness itself. And unbeknownst to the Galvins, samples of their DNA informed decades of genetic research that continues today, offering paths to treatment, prediction, and even 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.

What's in Your Genes?

Author : Katie McKissick
Publisher : Simon and Schuster
ISBN 13 : 1440567646
Total Pages : 256 pages
Book Rating : 4.4/5 (45 download)

DOWNLOAD NOW!

Book Synopsis What's in Your Genes? by : Katie McKissick

Download or read book What's in Your Genes? written by Katie McKissick and published by Simon and Schuster. This book was released on 2014-01-18 with total page 256 pages. Available in PDF, EPUB and Kindle. Book excerpt: Get the low-down on genetics with easy-to-understand terms and clear explanations. From interpreting dominant and recessive genes to learning about mutations, this book shows the different factors that can determine a person's DNA.