Research Interests

A growing number of human genetic diseases termed “ciliopathies” arise due to mutations in genes that regulate the formation or function of a microtubule-based organelle termed the cilium. Cilia regulate a diverse array of cellular functions critical to development, tissue homeostasis and sensory perception. The most common ciliopathies affect the kidney, manifesting as progressive loss of renal function in both children (nephronophthisis, ARPKD) and adults (ADPKD) ultimately leading to renal failure, dialysis and kidney transplant. Moreover, extra-renal manifestations such as retinal degeneration (progressive loss of visual acuity) are frequently observed in syndromic ciliopathies. We wish to understand at the molecular and organismal level how mutation of causative genes alters cellular function and ultimately leads to onset and progression of disease.