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Lab Reports
June 7, 2016

Research Uncovers Healthy People With Disease-Causing Mutations

JAMA. 2016;315(21):2267. doi:10.1001/jama.2016.6850

Through a global collaboration, researchers have conducted a search across 584 Mendelian disorders in more than 589 000 individuals not diagnosed with any of these conditions, with the hope of identifying individuals who are unaffected by genetic variants that typically cause disease (Chen R et al. Nat Biotechnol. doi:10.1038/nbt.3514 [published online April 11, 2016]). Analyses of such resilient people could provide insights on protective mechanisms against these diseases, thereby leading to novel treatment strategies.

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