My research is focused on defining the molecular underpinnings of podocyte injury and dysfunction in nephrotic syndrome (NS) with a primary focus on focal segmental glomerulosclerosis (FSGS). FSGS is the most common primary glomerular disease that causes end-stage kidney disease in the US and is caused by injury or loss of glomerular visceral epithelial cells (i.e. podocytes). My scientific contributions in the field include the identification of a novel heterozygous missense mutation in Wilms’ Tumor 1 (WT1) that caused non-syndromic familial FSGS (1), the identification of a dominant negative effect of the LIM Homeobox Transcription Factor 1ß R246Q mutation on expression of WT1 (-KTS) isoforms that contributes to the renal-specific phenotype associated with Nail Patella-like Renal Disease (2), and the identification of impaired autophagy and ER stress pathway activation as the cause of podocyte dysfunction and apoptosis induced by the human FSGS-causing ANLN R431C mutation (3). The goal of my research program is to translate novel discoveries in renal genetics into rational therapies and diagnostic tools for patients with NS.
Education and Training
- Nephrology Fellowship, Medicine, Duke University School of Medicine, 2011 - 2015
- Internal Medicine Residency, Medicine, Duke University School of Medicine, 2007 - 2010
- MD./PhD., University of Maryland, Baltimore, 2007