Academic Interests
Erythropoietic protoporphyria (EPP) results from pathogenic variants of the last enzyme of heme biosynthesis causing life-long, painful cutaneous sensitivity to light. In EPP, both the mechanism of pain and the variability in light sensitivity between patients is poorly understood. The identification and validation of potential therapeutic targets has been fraught with difficulty due to a lack of quantitative disease monitoring tools and biomarkers of phototoxic reactions. To address these needs, Dr. Amy Dickey is completing clinical studies of a wearable light dosimeter to quantitatively measure light sensitivity in EPP. She is also seeking to understand the genetic basis for differences in light sensitivity among patients. Her studies could lead to (1) methods to predict and prevent photosensitivity in EPP thus improving quality of life, (2) quantitative endpoints for clinical trials facilitating the approval of new therapies, and (3) a better understanding of the modulators of light sensitivity in EPP, which could lead to novel therapeutics. To better understand all types of porphyria, Dr. Dickey is also completing survey studies and registry studies of individuals with porphyria. Furthermore, she is analyzing large datasets to understand how genetic changes are associated with disease and disease severity in porphyria.