Skomorowsky The Carriers

What the Fragile X Gene Reveals About Family, Heredity, and Scientific Discovery
1. Auflage 2022
ISBN: 978-0-231-55228-8
Verlag: De Gruyter
Format: EPUB
Kopierschutz: Adobe DRM (»Systemvoraussetzungen)

E-Book, Englisch

The 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.

Autoren/Hrsg.

Skomorowsky, Anne

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Medizinische Fachgebiete Psychiatrie, Sozialpsychiatrie, Suchttherapie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
• Sozialwissenschaften Psychologie Psychotherapie / Klinische Psychologie Psychopathologie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Autismus und Asperger-Syndrom

Inhaltsverzeichnis

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
Index

Über Autor(innen)

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.