Ellis D. Avner, M.D. Associate Dean of Research, Children's Research Institute, Professor, Pediatrics (Nephrology)
Education: Princeton University, B.A., University of Pennsylvania School of Medicine, M.D
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Children's Research Institute
William E. Sweeney, M.S.
Assistant Professor- Pediatrics (Nephrology)
Education: University of Pittsburgh, Johnstown, PA, B.S., George Washington University, Washington DC, M.S.
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The Avner-Sweeney Lab
Our laboratory focuses on the cellular and molecular pathophysiology of Polycystic Kidney Disease (PKD), which is the most common human renal genetic disease. PKD affects 1/400 to 1/800 individuals, and is responsible for 8-10% of end stage renal disease population. In addition to its mortality and morbidity, which includes hypertension, stroke, pain, increased risk of cardiovascular disease, liver and pancreatic dysfunction, and nephrolithiasis, it is estimated that the cost of ESRD therapy alone for PKD patients in the USA is approximately $5 billion per year. The lab has identified alterations in the epidermal growth factor receptor (EGFR) - axis as a common factor in all forms of human PKD, and has developed unique experimental models to test therapeutic interventions both in vitro and in vivo. Currently, blockade of the EGFR-axis with antibodies, specific inhibitors of EGFR tyrosine kinase activity, and inhibition of downstream signaling intermediates show dramatic effects in ameliorating disease progression in experimental models. Such approaches have promise as new therapies for human PKD.