Sahra Gibbon
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Rare genetic disease, global health and genomics
The case of R337h in Brazil
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This chapter examines the increasingly visible meeting points between genomics and global health through the lens of rare genetic disease. Focusing on the association between R337h, a particular biomarker that has been identified at high population frequency in Brazil, and a cancer syndrome, it examines how rareness and the politics it enfolds is defined and put to work across terrains of local and global social action. It draws from ethnographic research undertaken in cancer genetic clinics in the south of Brazil with health professionals, scientists and patient communities. It examines the strategic movement between a politics of ‘singularisation’ and ‘numbers’ in how a focus on rare genetic disease is unfolding in this context and the complex vectors through which new yet partial realignments between genomics and global health are being made.

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