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动员突变:患者倡导时代的人类遗传学-Mobilizing Mutations: Human Genetics In The Age Of Patient Advocacy

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标题(title):Mobilizing Mutations: Human Genetics In The Age Of Patient Advocacy
动员突变:患者倡导时代的人类遗传学
作者(author):Daniel Navon
出版社(publisher):University Of Chicago Press
大小(size):4 MB (4320429 bytes)
格式(extension):pdf
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With every passing year, more and more people learn that they or their young or unborn children carries a genetic mutation. But what does this mean for the way we understand a person? Today, genetic mutations are being used to diagnose novel conditions like the XYY, Fragile X, NGLY1 mutation, and 22q11.2 Deletion syndromes, carving out rich new categories of human disease and difference. Daniel Navon calls this form of categorization “genomic designation,” and in Mobilizing Mutations he shows how mutations, and the social factors that surround them, are reshaping human classification. Drawing on a wealth of fieldwork and historical material, Navon presents a sociological account of the ways genetic mutations have been mobilized and transformed in the sixty years since it became possible to see abnormal human genomes, providing a new vista onto the myriad ways contemporary genetic testing can transform people’s lives. Taking us inside these shifting worlds of research and advocacy over the last half century, Navon reveals the ways in which knowledge about genetic mutations can redefine what it means to be ill, different, and ultimately, human.
Table of contents :
Contents......Page 8
Acknowledgments......Page 10
Introduction: From Mutations to New Kinds of People......Page 14
1. Genomic Designation: How Genetics Creates New Medical Conditions......Page 42
2. Immobile Mutations: Nowhere to Go in the 1960s and 1970s (and the Exception That Proves the Rule)......Page 73
3. Leveraging Mutations: Going from the Rare to the Common in Human Genetics......Page 110
4. The Loops That Tie: Mutations in the Trading Zone of Autism Genetics......Page 147
5. Assembling a New Kind of Person......Page 184
6. Mutations in the Clinic: Reframing Illness and Redirecting Medical Practice......Page 219
7. Remaking the Normal versus the Pathological in Genetic Medicine......Page 252
8. The Future for Genomic Designation and the New Prenatal Testing Landscape......Page 288
Conclusion......Page 319
Notes......Page 328
References......Page 348
Index......Page 396

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