Forbes D. Porter

This study identifies and validates serum protein biomarkers for Niemann-Pick disease, type C1, showing correlations with disease severity and response to therapy.

This study evaluates the efficacy of systemic AAV9-hNPC1 gene therapy in NPC1 mouse models, finding that higher doses and earlier treatment improve survival and slow disease progression.

The paper develops a human iPSC-derived neuronal model for NPC1 disease, showing it recapitulates disease features and responds to a proteostasis modulator.