Division of Medical Genetics

RESEARCH INTERESTS

Reed E. Pyeritz, M.D., Ph.D.

Dr. Pyeritz focuses his research in two areas: mendelian disorders of the cardiovascular system, especially those involving defects of connective tissue; and, genetic risk factors for atherosclerosis and their management. He is continuing his studies, begun over 20 years ago, of Marfan syndrome, a disease in which the aorta gradually enlarges and dissects, leading to early demise if untreated. Current efforts are directed at understanding the pathogenesis of aneurysm formation and dissection; the plan is to determine the risk factors predicting dissection and to use magnetic resonance imaging to measure indices of aortic wall tension. One goal is to develop better and individualized criteria for recommending prophylactic aortic root replacement. Another project in this general area involves collecting families affected by aortic coarctation, bicuspid aortic valve, or isolated aortic root aneurysm, and to search via candidate gene and whole genome linkage studies for the gene or genes that cause this clinical triad.

The second general project involves identifying young patients (e.g., < 40 years old) who have documented coronary artery disease and use them as probands to conduct family studies. His previous work has demonstrated that the common risk factors do not explain fully the high risk of atherosclerosis in all young patients, and in one line of investigation, novel genetic risk factors are being explored. Developing this population of patients at exceptionally high risk also provides an opportunity for clinical trials of both primary and secondary prevention strategies.

Recent Publications

• Rogers WJ, Hu Y-L, Coast D, Vido DA, Kramer CM, Pyeritz RE, Reichek N. Age- associated changes in regional aortic pulse wave velocity. JACC 2001;38:1123-9.
• Greendale K, Pyeritz RE. Empowering primary care health professionals in medical genetics: how soon? how fast? how far? Am J Med Genet 2001;106:223-32.
• Therrien J, Gatzoulis M, Graham T, Bink-Boelkens M, Connelly M, Niwa K, Mulder B, Pyeritz R, Perloff J, Somerville J, Webb GD. CCS Consensus Conference 2001 update: recommendations for the management of adults with congenital heart disease - part II. Can J Cardiol 2001;17:1029-50.
• Hoess K, Goldmuntz E, Pyeritz RE. Genetic counseling for congenital heart disease: new approaches for a new decade. Curr Cardiol Rep 2002;4:68-75.
• Majors AK, Sengupta S, Willard B, Kinter M, Pyeritz RE, Jacobsen DW. Homocysteine binds to plasma fibronectin and inhibits its interaction with fibrin. Arterioscler Thromb Vasc Biol 2002;22:1354-9.
• Erkula G, Jones KB, Sponseller HC, Dietz HC, Pyeritz RE. Physical growth characteristics and charts for the Marfan syndrome. Am J Med Genet 2002;109:100-15.
• Majors AK, Sengupta S, Jacobsen DW, Pyeritz RE. Upregulation of smooth muscle cell collagen production by homocysteine-insight into the pathogenesis of homocystinuria. Molec Genet Metab 2002;76:92-9.
• Jones KB, Sponseller PD, Hobbs W, Pyeritz RE. Lower limb-length discrepancy and scoliosis in Marfan syndrome. J Pediatr Orthopaed 2002;22:807-12.