physician-scientist
(she/her/hers)
Sphingosine-1-phosphate (S1P) is a bioactive lipid that plays important roles in development, vascular biology, immune cell trafficking, carcinogenesis and other physiological processes. S1P mediates its actions primarily by signaling through a family of G protein-coupled receptors. Our research group is investigating the role of S1P metabolism and signaling in development and disease using cellular and animal models, translational approaches and metabolomics profiling. Our recent findings demonstrate that defects in S1P metabolism underlie a novel childhood syndrome called sphingosine phosphate lyase insufficiency syndrome (SPLIS), which is characterized by defects of kidney, adrenal gland, neurological system, skin and immune system. We are now developing several therapeutic approaches to the treatment of SPLIS including gene therapy and cofactor supplementation.