UAB Establishes Center For Rare Genetic Kidney Disease

UAB Synopsis, Vol. 24, No. 38, October 17, 2005

UAB scientists hope the approval of a new multidisciplinary center will enhance understanding of autosomal recessive polycystic kidney disease (ARPKD), a genetic kidney disease.

Dr. Guay-WoodfordLisa Guay-Woodford, MD, was named first director of the UAB Recessive Polycystic Kidney Disease Core Center, authorized by the UA System Board of Trustees. Guay-Woodford is professor of medicine and director of the Division of Genetic and Translational Medicine.

ARPKD occurs in 1 in 6,000-40,000 people, with a higher incidence in Finns and Afrikaaners. It is a chronic and progressive disease that causes eventual kidney failure and liver abnormalities. Approximately 50% of patients are diagnosed prenatally. There is no cure and early newborn death occurs in up to half of those diagnosed.

UAB maintains a large registry for ARPKD patients and has 1 of 4 participating laboratories in an international ARPKD Consortium. Dr. Guay-Woodford's group was one of the groups that identified the gene that causes the disease.

UAB's center will serve as a unique resource to design and develop studies involving mechanisms of the disease, to enhance diagnostic specificity, and to expand therapeutic approaches.

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