Washington University in St. Louis (WU)
Peripheral Neuropathy (PN) is a common neurodegenerative disease which results in the degeneration of peripheral axons and is currently estimated to affect 30 million Americans. ~30% of PN patients are left without an etiologic diagnosis after gene panel testing and phenotyping, term idiopathic PN. I am interested in using metabolomics to characterize mitochondrial dysfunction associated with variation in mitochondrial-localized proteins annotated in the MitoCarta3.0 gene list and discovered in a cohort of iPN patients. My work integrates human genomics with downstream molecular phenotyping to better understand the functional consequences of rare and potentially pathogenic variants. By combining genomic analysis with untargeted metabolomics, I aim to identify biochemical signatures of mitochondrial dysfunction that may inform disease mechanisms, improve diagnostics, and guide therapeutic approaches.