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Lisa Guay-Woodford, MD, PhD

Dr. Lisa Guay-Woodford received her B.A. in 1979 from the College of the Holy Cross (Worcester, MA) and her M.D. in 1983 from Harvard Medical School. She served her internship, pediatric residency, and clinical fellowship in Pediatric Nephrology at The Children's Hospital in Boston, MA and following completion of her training, she was appointed as an Instructor in Pediatrics. Dr. Guay-Woodford joined the University of Alabama at Birmingham in January 1994 as an Assistant Professor. Although trained and certified as a pediatric nephrologist, her primary appointment is in the Department of Genetics where she is currently Professor and Vice Chair. In 2007, Dr. Guay-Woodford was appointed to the Anderson Family Endowed Chair in Medical Education, Research and Patient Care.

Her major research effort focuses on identifying the genetic factors involved in the pathogenesis of autosomal recessive polycystic kidney disease (ARPKD). This work has two components: (1) positional cloning efforts to identify disease genes and (2) complex trait analyses to identify candidate modifier genes. As part of the International ARPKD Consortium, her group cloned PKHD1, the major gene involved in human ARPKD. In addition, she characterized two distinct mouse models, cpk and bpk, in which the disease phenotype closely resembles human ARPKD and identified the genes, Cys1 and Bicc1, disrupted in each model, respectively. Current efforts are centered on characterizing the functional roles of these genes and their protein products in normal development and disease pathogenesis. Using the cpk mouse model, her lab has identified Kif12, a gene encoding a novel cilia/flagellar kinesin as a candidate genetic modifier of RPKD pathogenesis.