Anne Skomorowsky

The Carriers (eBook, PDF)

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

• Format: PDF

Produktbeschreibung

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.

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Produktdetails

• Verlag: Columbia University Press
• Erscheinungstermin: 3. Mai 2022
• Englisch
• ISBN-13: 9780231552288
• Artikelnr.: 62531415

Autorenporträt

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.

Inhaltsangabe

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