Mobilizing mutations : human genetics in the age of patient advocacy /
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 22...
| Main Author: | |
|---|---|
| Format: | Licensed eBooks |
| Language: | English |
| Published: |
Chicago :
University of Chicago Press,
[2019]
|
| Online Access: | https://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&AN=2157503 |
Table of Contents:
- Introduction: from mutations to new kinds of people
- Genomic designation: how genetics creates new medical conditions
- Immobile mutations: nowhere to go in the 1960s and 1970s (and the exception that proves the rule)
- Leveraging mutations: going from the rare to the common in human genetics
- The loops that tie: mutations in the trading zone of autism genetics
- Assembling a new kind of person
- Mutations in the clinic: reframing illness and redirecting medical practice
- Remaking the normal versus the pathological in genetic medicine
- The future for genomic designation and the new prenatal testing landscape
- Conclusion.