Gentzon Hall, MD, PhD, Primary Investigator
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
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.