Faculty & Staff

Reed E. Pyeritz, MD, PhD

faculty photo
William Smilow Professor
Chief, Division of Medical Genetics, University of Pennsylvania School of Medicine
Vice-Chair for Academic Affairs, Department of Medicine, Hospital of the University of Pennsylvania
Senior Felow, Leonard David Institute for Health Economics, University of Pennsylvania School of Medicine
William Smilow Professor of Medicine, University of Pennsylvania, Philadelphia, PA
Department: Medicine

Contact information
Division of Translational Medicine and Human Genetics
University of Pennsylvania School of Medicine
11-133 Smilow Center for Translational Research, 3400 Civic Center Blvd
Philadelphia, PA 19104-4283
Office: 215-662-4740
Fax: 215-573-8606
Lab: 215-573-5746
S.B. (Chemistry)
University of Delaware, 1968.
A.M, Ph.D. (Biological Chemistry)
Harvard University, 1972.
Harvard Medical School, 1975.
Post-Graduate Training
Intern in Medicine, Peter Bent Brigham Hospital, Boston, MA, 1975-1976.
Assistant Resident Physician, Peter Bent Brigham Hospital, 1976-1977.
Clinial Fellow in Medicine, Harvard Medical School, 1976-1977.
Resident in Medicine, Johns Hopkins Hospital, 1977-1978.
Fellow in Medicine, Johns Hopkins University School of Medicine, 1977-1978.
Certificate in Academic Medical Leadership, The Wharton School, University of Pennsylvania, Philadelphia, PA, 2008-2008.
American Board of Internal Medicine, 1978.
American Board of Medical Genetics (Clinical Genetics), 1981.
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Description of Research Expertise

Dr. Pyeritz focuses his research in two areas: Mendelian disorders of the cardiovascular system, especially those involving defects of connective tissue; and, ethical, legal and social implications of the human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions, diseases in which the aorta and occasionally major arterial branches, gradually enlarge and dissect, leading to early demise if untreated. Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT).

Dr. Pyeritz directs Penn CIGHT, the Center for the Integration of Genetic Healthcare Technologies. Supported by the ELSI Branch of the National Human Genome Research Institute, this center conducts research in the broad area of ‘uncertainty’ as related to the introduction of evolving approaches to assaying a patient’s genotype. Penn CIGHT also provides pilot grants to faculty and postdoctoral fellowships. Dr. Pyeritz is specifically addressing how molecular genetic testing for HHT impacts the acceptance and costs of screening relatives who are at-risk.

Selected Publications

Wagner JK, Mozersky JT, Pyeritz RE: Use it or lose it, as an alternative approach to protect genetic privacy in personalized medicine. Urol Oncol 32(2): 198-201, Feb 2014.

Pyeritz RE: Heritable thoracic aortic disorders. Curr Opin Cardiol 29(1): 97-102, Jan 2014.

Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M: RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat 34(12): 1632-1641, Dec 2013.

Woodward CS, Pyeritz RE, Chittams JL, Trerotola SO: Treated pulmonary arteriovenous malformations: patterns of persistence and associated retreatment success. Radiology 269(3): 919-926, Dec 2013.

Bossone E, Pyeritz RE, O'Gara P, Harris KM, Braverman AC, Pape L, Russo MJ, Hughes GC, Tsai TT, Montgomery DG, Nienaber CA, Isselbacher EM, Eagle KA; International Registry of Acute Aortic Dissection (IRAD) Investigators.: Acute aortic dissection in blacks: insights from the International Registry of Acute Aortic Dissection. Am J Med 126(10): 909-915, Oct 2013.

Bossone E, Corteville DC, Harris KM, Suzuki T, Fattori R, Hutchison S, Ehrlich MP, Pyeritz RE, Steg PG, Greason K, Evangelista A, Kline-Rogers E, Montgomery DG, Isselbacher EM, Nienaber CA, Eagle KA: Stroke and outcomes in patients with acute type A aortic dissection. Circulation 128(11 Suppl 1): S175-S179, Sep 2013.

Reiff M, Mueller R, Mulchandani S, Spinner NB, Pyeritz RE, Bernhardt BA: A Qualitative Study of Healthcare Providers' Perspectives on the Implications of Genome-Wide Testing in Pediatric Clinical Practice. J Genet Couns Sep 2013 Notes: [Epub ahead of print]

Clark K, Pyeritz RE, Trerotola SO: Angina pectoris or myocardial infarctions, pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and paradoxical emboli. Am J Cardiol 112(5): 731-734, Sep 2013.

Booher AM, Isselbacher EM, Nienaber CA, Trimarchi S, Evangelista A, Montgomery DG, Froehlich JB, Ehrlich MP, Oh JK, Januzzi JL, O'Gara P, Sundt TM, Harris KM, Bossone E, Pyeritz RE, Eagle KA; IRAD Investigators: The IRAD classification system for characterizing survival after aortic dissection. Am J Med 126(8): 730, Aug 2013.

Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA; GenTAC Registry Consortium; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Kim C, Milewicz DM.: Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet 93(2): 398-404, Aug 2013.

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Last updated: 02/11/2014
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