A significant current focus is on the role of ATP-sensitive potassium channels in genetically-defined diseases. We have characterized variants in the genes encoding the SUR2 and Kir6.1 subunits of KATP channels which result in distinct syndromes: gain-of-function variants result in Cantu Syndrome and loss-of-function mutations result in ABCC9-related intellectual disability and myopathy syndrome (AIMS). These are complex, multi-system disorders with pathology observed in the cardiovascular and musculoskeletal systems. We seek to understand how molecular dysfunction of KATP channels leads to this pathologies and to identify strategies to treat these disorders.
Additional, projects focus on the role of other ion channels in human disease, including K2P, Kir and TRP channels.
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