The Carriers: What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery
Anne Skomorowsky
280 pages, parution le 02/05/2022
Résumé
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.
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
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.
Caractéristiques techniques
| PAPIER | |
| Éditeur(s) | Columbia univ p |
| Auteur(s) | Anne Skomorowsky |
| Parution | 02/05/2022 |
| Nb. de pages | 280 |
| EAN13 | 9780231197663 |
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