Shek Man Chim

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Abstract The limited translatability of preclinical experimental findings to human patients remains an obstacle for successful treatment of brain diseases. Relevant models to elucidate mechanisms behind brain pathogenesis, such as human cell-based systems, and support successful targeting and prediction of drug responses in humans are in urgent need given the species differences in brain and blood-brain barrier (BBB) functions.

Abstract Human genetic studies of smoking behavior have been thus far largely limited to common variants. Studying rare coding variants has the potential to identify drug targets. We performed an exome-wide association study of smoking phenotypes in up to 749,459 individuals and discovered a protective association in CHRNB2, encoding the β2 subunit of the α4β2 nicotine acetylcholine receptor.