Investigator Bio

Zsolt Urban, Ph.D.

Assistant Professor of Pediatrics
Assistant Professor of Genetics

Genetics and Genomic Medicine
Developmental Biology and Genetics
Zsolt Urban Research Lab

Our laboratory is interested in genetic disorders caused by mutations in the elastin and related genes. Supravalvular aortic stenosis (SVAS) is an obstructive arterial disorder characterized by segmental narrowing of major arteries, including the aorta and pulmonary arteries. SVAS may occur as a part of a complex developmental disease, Williams-Beuren syndrome (WBS) or as an autosomal dominant, inherited non-syndromic disease. We have shown that non-syndromic SVAS is caused by heterozygous, loss of function mutations in the elastin gene and that reduced deposition of elastin by SVAS cells results in a hyperproliferative phenotype. Ongoing studies in the laboratory investigate the mechanisms by which reduced elastin deposition regulates cell growth.

Cutis laxa (CL), a disease characterized by loose, redundant, and inelastic skin may also be caused by mutations in the elastin gene. We have shown that such mutations may cause severe systemic involvement including pulmonary emphysema or aortic root aneurysms. Further functional studies indicate that CL mutations in the elastin gene result in the synthesis and matrix deposition of mutant tropoelastin. We are applying cell culture and transgenic mouse models to investigate the mechanism through which CL mutations interfere with elastin function. Additional projects are focused on the discovery of novel genes responsible for cutis laxa an on investigating single nucleotide polymorphisms in the elastin gene as risk factors of aneurysmal disease.

Education

• M.S., University of Szeged, Hungary, 1992
• Ph.D., Semmelweis University of Medicine, Budapest, Hungary, 1997

Training

• Junior Researcher, Pacific Biomedical Research Center, University of Hawaii 1997-2001

Selected Publications - CLICK HERE