The Carriers: What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery

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Anne Skomorowsky

The Carriers

What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery

Anne Skomorowsky

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Hardback

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English

Columbia University Press
07 June 2022

Other branches of medicine

"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."

By: Anne Skomorowsky
Imprint: Columbia University Press
Country of Publication: United States
Dimensions: Height: 216mm, Width: 140mm,
ISBN: 9780231197663
ISBN 10: 0231197667
Pages: 280
Publication Date: 07 June 2022
Audience: General/trade , ELT Advanced
Format: Hardback
Publisher's Status: Active

Foreword, 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

Anne Skomorowsky is a clinical instructor in psychiatry at the NYU Grossman School of Medicine and attending psychiatrist at NYU Langone Hospital. Her writing has appeared in the New York Times, the Washington Post, the Wall Street Journal, Scientific American, and Slate. Randi J. Hagerman is a distinguished professor of pediatrics at the University of California Davis Medical Center and director of the Fragile X Research and Treatment Center at the MIND Institute, where she holds an endowed chair in fragile X research.

Reviews for The Carriers: What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery

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. -- Paul J. Hagerman, distinguished professor, UC Davis Mind Institute 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. -- Lauren Sandler, author of This Is All I Got and One and Only Who 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. -- Barron H. Lerner, author of The Good Doctor: A Father, A Son and the Evolution of Medical Ethics 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. -- Edward Ball, author of The Genetic Strand and Slaves in the Family 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. * Foreword Reviews * 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. * Midwest Book Review *