Elena Torban

My laboratory pursues two major research programs. One focus is on pathogenic mechanisms of kidney birth defects in humans, which arise when specific genes do not function properly. We study how a novel planar cell polarity pathway is involved in normal mammalian development and how its dysfunction contributes to the kidney defects. Our second program investigates glomerulus. Some people feel well for many years until unexpectedly their kidneys stop working: they start losing protein from blood and may develop irreversible changes in the kidney filtration unit. These patients suffer from idiopathic focal segmental glomerulosclerosis, a condition that progressively leads to kidney failure, necessitating dialysis and transplantation. We focus on elucidating cellular and molecular mechanisms that underlie this acquired kidney disease. My lab uses many molecular and biochemical methods, unique cells and mouse models of disease, searches for genetic mutations, and screens patient sera to ascertain underlying pathogenic mechanisms in order to find efficient novel treatments.

Keywords:

• kidney development
• planar cell polarity
• cilia formation and ciliophaties
• glomerular disease
• mouse models of human kidney diseases
• cell culture
• omics
• biochemistry