Spencer Shelton

Modulating metabolic flux by hematopoietic stem cell engineering to ameliorate porphyrias

This project seeks to develop and translate a novel gene therapy approach for erythropoietic protoporphyria (EPP), a debilitating genetic disorder driven by toxic accumulation of intermediates involved in heme biosynthesis. Rather than correcting individual disease-causing mutations, the approach targets a shared regulatory point in this metabolic pathway. By modulating control at this level within blood cells, the strategy is designed to be universally applicable across all mutations that cause EPP. Through this work, the project aims to identify a mechanistically grounded therapeutic approach that could be ready for clinical testing by the end of the grant period.