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Mobilizing Mutations – Human Genetics in the Age of Patient Advocacy - Chicago Scholarship Online
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Mobilizing Mutations: Human Genetics in the Age of Patient Advocacy

Daniel Navon

Abstract

Mobilizing Mutations shows how biomedical experts and patient advocates are using genetic testing to carve out new medical conditions and create powerful networks of research, care, and activism. For sixty years, researchers have discovered, delineated, and diagnosed conditions like the XYY, NGLY1, Fragile X, and 22q11.2 Deletion Syndromes strictly according to genetic mutations, often in the face of enormous clinical variability. Mobilizing Mutations introduces this practice of “genomic designation” and takes us into the shifting social and biomedical worlds built up around these novel disord ... More

Keywords: genetics, mutations, classification, genomic designation, looping, biosociality, autism, reiterated fact-making, patient advocacy, geneticization, identity, patient activism

Bibliographic Information

Print publication date: 2019 Print ISBN-13: 9780226638096
Published to Chicago Scholarship Online: May 2020 DOI:10.7208/chicago/9780226638126.001.0001

Authors

Affiliations are at time of print publication.

Daniel Navon, author
University of California, San Diego