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Carriers : What the Fragile X Gene Reveals about Family, Heredity, and Scientific Discovery by Anne Skomorowsky (2022, Hardcover)
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About this product
Product Identifiers
PublisherColumbia University Press
ISBN-100231197667
ISBN-139780231197663
eBay Product ID (ePID)15057242647
Product Key Features
Number of Pages280 Pages
Publication NameCarriers : What the Fragile X Gene Reveals about Family, Heredity, and Scientific Discovery
LanguageEnglish
Publication Year2022
SubjectPediatrics, Psychopathology / Autism Spectrum Disorders, Genetics, Psychiatry / General
TypeTextbook
Subject AreaPsychology, Medical
AuthorAnne Skomorowsky
FormatHardcover
Dimensions
Item Height1 in
Item Weight18.1 Oz
Item Length8.8 in
Item Width6.7 in
Additional Product Features
Intended AudienceTrade
LCCN2021-034141
TitleLeadingThe
Dewey Edition23
ReviewsWho would have thought that the carrier state of a genetic mutation--fragile X syndrome--would warrant a book? With great insight and kindness, Anne Skomorowsky tells the fascinating story of a group of people who may appear unaffected but struggle mightily with a remarkable number of inherited medical conditions., Lucid, comprehensive history of Fragile X. A compassionate medical account. Blending stories and interviews with science and statistics, The Carriers balances the worldwide scope of a disease with intimate details., Skomorowsky deftly interweaves science and narrative. The heroic efforts of astute researchers ... read like a fast-paced detective story and have ramifications beyond medicine. [An] enlightening account., The Carriers represents a lucid and insightful look at the myriad consequences of an expanded CGG repeat in the DNA of the fragile X (FMR1) gene. A remarkable quality of this book is the way the author emphasizes the humanity of those experiencing the consequences of the repeat expansion, due to the gene itself and to the lack of understanding on the part of caregivers. A must-read for both clinicians and families., Wonderfully reported and written in close-up about people and their families, their tears, and medical challenges, The Carriers is the rarest book in science, a beautifully readable investigation made from a set of portraits. Like a biography of a genetic mutation, it tells the story of fragile X syndrome through people it most affects. The result is both personal and rigorous, particular and general, science that examines things, but also feels them., Exceptionally well written, organized and presented, and enhanced with an especially informative Foreword by pediatric professor and Fragile X researcher Randy J. Hagerman. Essential reading for Fragile X families, including those just learning they are carriers, and for all professional and non-specialist general readers with an interest in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality., Anyone who's been gripped by the title of the book or its description would find it a delightful read, especially those interested in the biomedical sciences., Skomorowsky's clear, frank, and compelling writing, [ensures] that this book is appealing and accessible to all audiences. In addition, she brings the vantage point of a psychiatrist who has firsthand experience working with those with intellectual disabilities. As such, she presents complex and comprehensive scientific information about fragile X and the premutation in a simple and engaging manner. The book is well researched, captivating, and an important contribution to better understanding our relationship with genes., Exceptionally well written, organized and presented. . . . Essential reading for fragile X families, including those just learning they are carriers, and for all professional and non-specialist general readers with an interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality., The Carriers offers a lucid and insightful look at the many consequences of an expansion-type mutation of the fragile X gene. A remarkable quality of this book is the way Anne Skomorowsky emphasizes the humanity of those experiencing its consequences, because of the gene itself and the lack of understanding on the part of caregivers. A must-read for both clinicians and families., This is the book I wish I'd had when my bloodwork came back mid-pregnancy, and the book I'm glad my daughter will have. I'm grateful that Skomorowsky, a gifted writer and practitioner, has woven together narrative and research to help us see and understand what is invisible and unknown to so many of us.
IllustratedYes
Dewey Decimal618.92/858841
Table Of ContentForeword, by Randi Hagerman, MD Introduction: The Carriers 1. One Damn Thing After Another 2. Fragile X Mutations: An Overview 3. Village of Fools: How Carriers Brought Fragile X to Colombia, and What Happened Next 4. A Classic Zebra: Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) 5. The Movement Disorder That Started a Movement: Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) 6. Once More, with Feelings: Fragile X-Associated Neuropsychiatric Disorders (FXAND) 7. What Are Fragile Eggs? To Test or Not to Test 8. Borderlands of the Premutation: Gray Zones, Low-Normals, and Endophenotypes 9. Outcomes Notes Acknowledgments Index
SynopsisThe Carriers investigates a common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how fragile X syndrome afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics., 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.
LC Classification NumberRJ506.F73
