University of Missouri – Columbia (MU)
My research focuses on inherited peripheral neuropathies, particularly Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP)—both caused by dysregulation of the PMP22 gene. In CMT1A, overexpression of PMP22 disrupts the lipid-protein balance in myelin, destabilizing compact sheaths. In contrast, HNPP results from PMP22 deficiency, which compromises Schwann cell tight and adherens junctions, increasing axonal permeability. Although both conditions impair Schwann cell–axon communication, the timing and progression of these disruptions remain poorly understood. In Dr. Moss’s lab, I employed conditional mouse models of CMT1A and HNPP, along with super-resolution microscopy, to investigate how PMP22 imbalances affect myelination during development and into adulthood. My current focus is on developing and characterizing novel models of CMT1A and HNPP to better understand disease pathogenesis and to facilitate the development of targeted therapies.