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Mobilizing MutationsHuman Genetics in the Age of Patient Advocacy$
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Daniel Navon

Print publication date: 2019

Print ISBN-13: 9780226638096

Published to Chicago Scholarship Online: May 2020

DOI: 10.7208/chicago/9780226638126.001.0001

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PRINTED FROM CHICAGO SCHOLARSHIP ONLINE (www.chicago.universitypressscholarship.com). (c) Copyright University of Chicago Press, 2021. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in CHSO for personal use.date: 27 July 2021

The Loops That Tie: Mutations in the Trading Zone of Autism Genetics

The Loops That Tie: Mutations in the Trading Zone of Autism Genetics

Chapter:
(p.134) Four The Loops That Tie: Mutations in the Trading Zone of Autism Genetics
Source:
Mobilizing Mutations
Author(s):

Daniel Navon

Publisher:
University of Chicago Press
DOI:10.7208/chicago/9780226638126.003.0005

The intertwined histories of autism and genomic designation show how genetics and classification can shape one another in unexpectedly dynamic ways. This chapter recounts the decades-long looping process—itself shaped by ideas and evidence about genetics and heritability (i.e. “geneticization”)—that turned autism into a much broader category and tied it to the mutations discussed in this book. By studying autism rates in people with genomically designated conditions over time, we see how that same process of diagnostic change turned previously unrelated mutations like 5p-, XYY and Fragile X into “genes for” autism. In short, tracing these mutations shows how looping actually transformed the genetic makeup of the autism population. It also demonstrates how changes in clinical medicine and psychiatry shape the conditions of possibility for genomic designation: they set the terms for describing a mutation’s phenotype and create important links with common conditions. The last part of the chapter examines the powerful alliances or "trading zones" between experts and advocates dedicated to rare genomically designated conditions like 22q13DS and their counterparts dedicated to psychiatric disorders like autism. We see how experts and advocates manage to work together very effectively despite divergent goals and incommensurate ideas about disease, cause, and symptom.

Keywords:   autism, geneticization, looping, heritability, Fragile X, 22q13 Deletion Syndrome, XYY, Williams syndrome, trading zones, psychiatry

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