Position title: Assistant Professor, Pediatrics
Phone: Understanding the mechanism of Kir7.1 mutations associated blindness using patient derived iPS-Retinal Pigment Epithelium cells
BSc 1987 Sambalpur University, Sambalpur, India
MSc 1989 Sambalpur University, Sambalpur, India
PhD 1997 University of Delhi, Delhi, India
Understand the mechanism of Kir7.1 mutations associated blindness using patient derived iPS-Retinal Pigment Epithelium cells. Kir7.1 potassium channels are present in the apical processes of RPE cell that mediate ionic homeostasis within the retina structure and several mutations are associated with childhood blindness. Our primary goal is to restore functional Kir7.1 channel in patient derived iPS-RPE cells either through gene delivery or using various drugs targeting rectification of mutant channel. iPS-RPE cells give advantageous access to patients for drug and gene trial so that translation from bench to bed side is quick. We use whole cell electrophysiology for characterizing Kir7.1 current in these cells and immunohistochemistry and biochemical protocol are informative of protein expression quantitation. In another project our goal is to determine the function of bestrophin. Bestrophin was cloned from RPE cells and in heterologous system was demonstrated as a Cl- channel. Several other investigations showed that it can also function as a mediator of cell calcium. Using Best’s disease patient derived iPS-RPE cells we are trying to model the true function of bestrophin in its most natural environment.
- Joined ERP: 2016
- ERP T32 Faculty Trainer