Congratulations to Carmen Halabi, MD, PhD, Associate Professor, Pediatrics, Nephrology, and collaborator Jeffrey Miner, PhD, FASN, Eduardo and Judith Slatopolsky Professor of Medicine in Nephrology, who were awarded an Alport Syndrome Foundation (ASF) grant to fund research into the presence of aortic aneurysms in Alport mice.
Alport syndrome is a genetic kidney disease that occurs in people of all ages, sexes, and ethnicities. Because it is estimated to affect less than 200,000 people in the United States, Alport syndrome is considered to be a rare disease. The disease is characterized by a progressive decline in kidney function, hearing loss, and eye abnormalities and is caused by mutations that affect the expression or function of the type IV collagen a345 family of proteins in the basement membranes of affected organs.
Individuals with Alport syndrome are reported to have aneurysms or dilation of blood vessels, which could lead to vessel rupture and ultimately be life-threatening. The grant will enable Drs. Halabi and Miner to investigate type IV collagen found in the kidneys, ears, and aorta. Their research will determine if mutations in type IV collagen genes increase the risk of developing aortic aneurysms.
As a physician-scientist, Dr. Halabi focuses on extracellular matrix proteins, especially those forming the elastic fibers in blood vessels. These fibers provide elasticity to blood vessels, and abnormalities in their components can result in complications such as hypertension, vessel stiffness, and aneurysms. More about Halabi’s exciting research can be found here.
Dr. Miner, an internationally recognized expert on Alport syndrome, will provide the mouse model for the study. He created this model in 1994 and has been researching Alport syndrome and other glomerular basement membrane and podocyte diseases since joining the WashU Nephrology faculty in 1996. By studying an animal model of Alport syndrome, the proposed research aims to lay the groundwork for a deeper understanding of potential risks in human patients. See more at the Miner Lab website.
On X , please follow @AlportSyndFndn, @carmen_halabi and @JeffMinerPhD.
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