Kaitlyn V. Ledwitch

This study evaluates VX-121's efficacy across 232 rare CFTR variants, finding it generally more effective than VX-445 but with one variant showing reduced selectivity.

The paper develops classifiers to distinguish functional and trafficking effects of KCNQ1 variants, improving variant interpretation for LQTS and channelopathies.

This study identifies a small molecule, VU0494372, that enhances KCNQ1 expression and trafficking, offering a potential therapeutic approach for LQTS.

This study investigates the effects of a DAT mutation linked to DTDS, showing impaired dopamine function and behavioral deficits in Drosophila, with potential therapeutic implications.