RNA Regulation in Epithelial and Neuromuscular Disease

The Nutter Lab studies how RNA processing, transport, and localization govern epithelial and neural function in health and disease. We focus on how disruptions in these pathways alter tissue homeostasis, barrier function, and biofluid composition, contributing to neurological and neuromuscular disorders.
A central focus of the lab is biofluid-regulating epithelial tissues, including the choroid plexus of the brain and the ciliary body of the eye. In myotonic dystrophy type 1 (DM1), we have identified widespread RNA mis-splicing in choroid plexus epithelial cells that alters cerebrospinal fluid composition and may impact central nervous system function. Ongoing studies examine whether related RNA-mediated defects disrupt aqueous humour regulation in the eye.
In parallel, we investigate inherited neuromuscular and neurological diseases, including X-linked disorders and Charcot-Marie-Tooth (CMT) disease, where altered RNA expression or intracellular RNA transport contributes to pathology. By identifying shared RNA regulatory mechanisms across epithelial and neural tissues, we aim to define common principles underlying multisystem genetic disease.
Our work integrates molecular biology, transcriptomics, cell culture and organoid models, and genetically engineered mouse models to connect RNA-level mechanisms with tissue- and organism-level phenotypes.