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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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Leveraging Mutations: Going from the Rare to the Common in Human Genetics

Leveraging Mutations: Going from the Rare to the Common in Human Genetics

(p.97) Three Leveraging Mutations: Going from the Rare to the Common in Human Genetics
Mobilizing Mutations

Daniel Navon

University of Chicago Press

This chapter discusses the practice of “leveraging” genetic mutations. When a rare mutation is strongly associated with a common trait or medical condition, biomedical researchers often use the population with that mutation as a biological model for much broader, otherwise intractable questions about human difference. A trio of case studies shows how researchers can leverage mutations, turning genomically designated conditions into privileged sites of biomedical knowledge production: MAOA mutations and Brunner Syndrome as a model for aggression and crime; the 7q11.23 microdeletion that causes Williams Syndrome as a model for sociability and language; and the Fragile X mutation/syndrome as a model for psychiatric disorders like autism. The leveraging alliance between the Fragile X and autism movements was so successful it became a beacon for advocates dedicated to other genetic disorders. Although biologists have long used the abnormal as a lens onto broad questions about life, the most powerful forms of leveraging today take aim at common forms of human illness. Mutations can now serve as "boundary objects" that unite different disciplines, funding agencies, commercial actors, and advocacy organizations. In this way, the very meaning of a genetic mutation can be transformed by the changing “biosocial” networks built up around it.

Keywords:   leveraging, Williams syndrome, Brunner syndrome, MAOA, warrior gene, Fragile X, autism, biosociality, boundary objects, biological models

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