Reed E. Pyeritz

faculty photo
William Smilow Professor
Professor of Genetics, University of Pennsylvania
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.
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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.

Description of Itmat Expertise

Dr. Pyeritz studies heritable diseases compatible with survival to adulthood and has long been involved with studying pathogenesis and what it teaches about treatments.

Selected Publications

Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, Pearson GD, Selamet Tierney ES, Levine JC, Atz AM, Benson DW, Braverman AC, Chen S, De Backer J, Gelb BD, Grossfeld PD, Klein GL, Lai WW, Liou A, Loeys BL, Markham LW, Olson AK, Paridon SM, Pemberton VL, Pierpont ME, Pyeritz RE, Radojewski E, Roman MJ, Sharkey AM, Stylianou MP, Wechsler SB, Young LT, Mahony L; Pediatric Heart Network Investigators: Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med 371(22): 2061-2071, Nov 2014.

Pyeritz RE: What is the optimal medical therapy for Marfan syndrome? J Pediatr 165(5): 889-890, Nov 2014.

Dean JH, Woznicki EM, O'Gara P, Montgomery DG, Trimarchi S, Myrmel T, Pyeritz RE, Harris KM, Suzuki T, Braverman AC, Hughes GC, Kline-Rogers E, Nienaber CA, Isselbacher EM, Eagle KA, Bossone E: Cocaine-related aortic dissection: lessons from the International Registry of Acute Aortic Dissection. Am J Med 127(9): 878-885, Sep 2014.

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 23(4): 474-488, Aug 2014.

Hoff E, Eagle T, Pyeritz RE, Ehrlich M, Voehringer M, Bossone E, Hutchison S, Peterson MD, Suzuki T, Greason K, Forteza A, Montgomery DG, Isselbacher EM, Nienaber CA, Eagle KA: Pulse pressure and type A acute aortic dissection in-hospital outcomes (from the International Registry of Acute Aortic Dissection). Am J Cardiol 113(y): 1255-1259, Apr 2014.

Cook JR, Carta L, Bénard L, Chemaly ER, Chiu E, Rao SK, Hampton TG, Yurchenco P; GenTAC Registry Consortium, Costa KD, Hajjar RJ, Ramirez F : Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome. J Clin Invest 124(3): 1229-1339, Mar 2014.

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.

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Last updated: 05/06/2015
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