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9.25.2017

Dr. Alessia Fornoni Receives Grants to Study Alport Syndrome

Alessia Fornoni, M.D., Ph.D., professor of medicine, chief of the Katz Family Division of Nephrology and Hypertension, director of the Peggy and Harold Katz Family Drug Discovery Center, and associate director of the newly NIH-funded Medical Scientist Training Program, has received $100,000 in research funding from the Alport Syndrome Foundation.

Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome have blood in their urine (hematuria) and experience progressive loss of kidney function, leading to the need for dialysis and/or kidney transplant. The disease is caused by mutations in type IV collagen genes that lead to abnormal collagens being expressed in the basement membranes of all affected organs.

Fornoni’s 15-month study, “Targeting podocyte lipotoxicity in Alport syndrome,” stems from a recent observation in her laboratory that progressive kidney disease in Alport syndrome is accompanied by accumulation of lipids in the kidney. They observed that accumulation of lipids in the kidney affects the function of the podocyte, a key cellular component of the kidney filter. Fornoni’s team will explore whether Ezetimibe (Zetia), an FDA-approved cholesterol drug, can block the progression of kidney disease in mice with Alport syndrome by disrupting the cycle that damages podocytes.

“So little can be done these days for patients affected by Alport syndrome, and the identification of a new pathway linking lipid accumulation to local inflammation and progression of kidney disease may open the door to new therapeutic developments,” said Fornoni. “Studies by others have shown that these inflammatory responses, which are triggered by the activation of a protein called CD36, can be blocked by Ezetimibe. Our goal is to demonstrate a potential therapeutic benefit through a repurposing strategy of Ezetimibe.”

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