Chronic Kidney Disease
Chronic kidney disease is a devastating condition that affects an increasing number of people in the world. It leads to a progressive loss of kidney function in affected individuals and ultimately necessitates dialysis or kidney transplantation for survival. My lab has demonstrated that impairment of DNA damage response in the kidney tubular epithelium can lead to kidney tubular injury and precipitate progressive fibrotic changes in the kidney, culminating in loss of kidney function. Investigating the role of DNA damage response in normal tubular maintenance, and assessing how its deficiency underpins chronic kidney pathology is a high priority of our work.
Renal Ciliopathies
Renal ciliopathies are a group of fibrocystic kidney diseases that are caused by structural or functional defects in the primary cilium – a whiplike cell-surface organelle, that regulates the activity of several cellular signaling pathways. Accordingly, mutations in ciliary genes, such as those encoding nephrocystins/NPHP-proteins, compromise the cilium, and result in fibrocystic kidney pathology. Although, being a major genetic cause of childhood end-stage kidney disease, the pathomechanisms underlying NPHP are not well understood. To get better insights into the disease mechanisms, and to develop therapies against this condition, we use transgenic animal models and cell culture systems.