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Reed E. Pyeritz, MD, PhD
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Emeritus Professor of Medicine
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Professor of Genetics, University of Pennsylvania
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Chair, Committe on Appointments and Promotions, Department of Medicine
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Perelman School of Medicine of the University of Pennsylvania
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Senior Felow, Leonard David Institute for Health Economics, University of Pennsylvania School of Medicine
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William Smilow Professor of Medicine, University of Pennsylvania, Philadelphia, PA
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Department: Medicine
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Contact information
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Division of Translational Medicine and Human Genetics
35 University of Pennsylvania School of Medicine
73 11-133 Smilow Center for Translational Research, 3400 Civic Center Blvd
Philadelphia, PA 19104-4283
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35 University of Pennsylvania School of Medicine
73 11-133 Smilow Center for Translational Research, 3400 Civic Center Blvd
Philadelphia, PA 19104-4283
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Office: 215-662-4740
32 Fax: 215-614-0298
32 Lab: 215-573-5746
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32 Fax: 215-614-0298
32 Lab: 215-573-5746
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Email:
reed.pyeritz@uphs.upenn.edu
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reed.pyeritz@uphs.upenn.edu
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Publications
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Education:
21 9 S.B. 16 (Chemistry) c
2f University of Delaware, 1968.
21 f A.M, Ph.D. 21 (Biological Chemistry) c
2b Harvard University, 1972.
21 9 M.D. c
2f Harvard Medical School, 1975.
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Permanent link21 9 S.B. 16 (Chemistry) c
2f University of Delaware, 1968.
21 f A.M, Ph.D. 21 (Biological Chemistry) c
2b Harvard University, 1972.
21 9 M.D. c
2f Harvard Medical School, 1975.
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Description of Research Expertise
2be 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 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 the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosis and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT).65
Description of Clinical Expertise
5a Heritable disorders of the cardiovascular system, especially of the aorta.1a 29
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8c Damrauer SM, Hardie K, Kember RL, Judy R, Birtwell D, Williams H, Rader DJ, Pyeritz RE.: 8d FBN1 Coding Variants and Nonsyndromic Aortic Disease. Circ Genom Precis Med. 2019; Jun;12(6):e002454. doi: 10.1161/CIRCGEN.119.002454. 1a 2019.
22a Handisides JC, Hollenbeck-Pringle, Uazark K, Trachtenberg FL, Pemberton VL, Atz TW, Bradley TJ, Capella E, De Nobele S, Groh GK, Hamstra MS, Korsin R, Levine JC, Lindaur B, Liou A, Mac Neal MK, Markham LW, Morrison T, Mussatto KA, Olson AK, Pierpont ME, Pyeritz RE, Radojewski EA, Roman MJ, Sparks EA, Xu M, Lacro RV, for the Pediatric Heart Network Investigators. : Health-related quality of life in children and young adults with Marfan syndrome. J Pediatr 2019;204:250-5. 2019.
e7 Bai HX, Pyeritz RE, Trerotola SO. : Covered stents in the treatment of pulmonary arteriovenous malformations. J Vasc Interv Radiol 2018;29(7):981-5. 2018.
1b7 Wooderchak-Donahue WL, McDonald J, Farrell A, Akay G, Velinder M, Johnson P, VanSant-Webb C, Margraf R, Briggs E, Whitehead KJ, Thomson J, Lin AE, Pyeritz RE, Marth G, Bayrak-Toydemir P. : Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in hereditary haemorrhagic telangiectasia. J Med Genet 2018;Sept 22. pii: jmedgenet-2018-105561 2018.
156 Chick JFB, Reddy SN, Pyeritz RE, Trerotola SO: A survey of pulmonary artery malformation screening, management, and follow-up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence. Cardiovasc Intervent Radiol 2017 Feb 10 doi: 10.1007/s00270-017-1604-6. 2017.
d9 Siddiqi HK, Bossone E, Pyeritz RE, Eagle KA: Chronobiology of acute aortic syndromes. Heart Failure Clin 2017;13:697-701. PMID: 28865779 2017.
1b2 Siddiqi HK, Luminais SN, Montgomery D, Bossone E, Dietz H, Evangelista A, Isselbacher E, LeMaire S, Manfredini R, Milewicz D, Nienaber CA, Roman M, Sechtem U, Silberbach M, Eagle KA, Pyeritz RE, on behalf of the GenTAC and IRAD Investigators: Chronobiology of acute aortic dissection in the Marfan syndrome. Am J Cardiol 2017;119(5):785-9. PMID: 28065489 2017.
cf Whitehead KJ, Sautter NB, McWilliams JP, Chakinala MM, Merlo CA, Johnson MH, James M, Everett EM, Clancy MS, Faughnan ME, Oh SP, Olitsky SE, Pyeritz RE, Gossage JR d2 : Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial. JAMA. 316(9): 943-951, Sep 2016.
199 Roman MJ, Pugh NL, Hendershot TP, Devereux RB, Dietz H, Holmes K, Eagle KA, LeMaire SA, Milewicz DM, Morris SA, Pyeritz RE, Ravekes WJ, Shohet RV, Silberbach M; GenTAC Investigators: Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions 45 (GenTAC). J Am Heart Assoc 5: 8, Aug 2016.
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Selected Publications
165 Curnes NR, Desjardins B, Pyeritz RE, Chittams J, Sienko D, Trerotola SO. : Lack of growth of small untreated pulmonary arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. 2019 June 26. pii: S1051-0443(19)30378-1. doi: 10.1016/j.jvir.2019.04.009. 2019.8c Damrauer SM, Hardie K, Kember RL, Judy R, Birtwell D, Williams H, Rader DJ, Pyeritz RE.: 8d FBN1 Coding Variants and Nonsyndromic Aortic Disease. Circ Genom Precis Med. 2019; Jun;12(6):e002454. doi: 10.1161/CIRCGEN.119.002454. 1a 2019.
22a Handisides JC, Hollenbeck-Pringle, Uazark K, Trachtenberg FL, Pemberton VL, Atz TW, Bradley TJ, Capella E, De Nobele S, Groh GK, Hamstra MS, Korsin R, Levine JC, Lindaur B, Liou A, Mac Neal MK, Markham LW, Morrison T, Mussatto KA, Olson AK, Pierpont ME, Pyeritz RE, Radojewski EA, Roman MJ, Sparks EA, Xu M, Lacro RV, for the Pediatric Heart Network Investigators. : Health-related quality of life in children and young adults with Marfan syndrome. J Pediatr 2019;204:250-5. 2019.
e7 Bai HX, Pyeritz RE, Trerotola SO. : Covered stents in the treatment of pulmonary arteriovenous malformations. J Vasc Interv Radiol 2018;29(7):981-5. 2018.
1b7 Wooderchak-Donahue WL, McDonald J, Farrell A, Akay G, Velinder M, Johnson P, VanSant-Webb C, Margraf R, Briggs E, Whitehead KJ, Thomson J, Lin AE, Pyeritz RE, Marth G, Bayrak-Toydemir P. : Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in hereditary haemorrhagic telangiectasia. J Med Genet 2018;Sept 22. pii: jmedgenet-2018-105561 2018.
156 Chick JFB, Reddy SN, Pyeritz RE, Trerotola SO: A survey of pulmonary artery malformation screening, management, and follow-up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence. Cardiovasc Intervent Radiol 2017 Feb 10 doi: 10.1007/s00270-017-1604-6. 2017.
d9 Siddiqi HK, Bossone E, Pyeritz RE, Eagle KA: Chronobiology of acute aortic syndromes. Heart Failure Clin 2017;13:697-701. PMID: 28865779 2017.
1b2 Siddiqi HK, Luminais SN, Montgomery D, Bossone E, Dietz H, Evangelista A, Isselbacher E, LeMaire S, Manfredini R, Milewicz D, Nienaber CA, Roman M, Sechtem U, Silberbach M, Eagle KA, Pyeritz RE, on behalf of the GenTAC and IRAD Investigators: Chronobiology of acute aortic dissection in the Marfan syndrome. Am J Cardiol 2017;119(5):785-9. PMID: 28065489 2017.
cf Whitehead KJ, Sautter NB, McWilliams JP, Chakinala MM, Merlo CA, Johnson MH, James M, Everett EM, Clancy MS, Faughnan ME, Oh SP, Olitsky SE, Pyeritz RE, Gossage JR d2 : Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial. JAMA. 316(9): 943-951, Sep 2016.
199 Roman MJ, Pugh NL, Hendershot TP, Devereux RB, Dietz H, Holmes K, Eagle KA, LeMaire SA, Milewicz DM, Morris SA, Pyeritz RE, Ravekes WJ, Shohet RV, Silberbach M; GenTAC Investigators: Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions 45 (GenTAC). J Am Heart Assoc 5: 8, Aug 2016.
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