Reed E. Pyeritz, MD, PhD
Reed E. Pyeritz, MD, PhD
William Smilow Professor
Department: Medicine
Contact information
3400 Spruce Street
11 Penn Tower, Suite 1115
Philadelphia, PA 19104
11 Penn Tower, Suite 1115
Philadelphia, PA 19104
Office: 215-662-4740
Fax: 215-614-0298
Fax: 215-614-0298
Email:
reed.pyeritz@uphs.upenn.edu
reed.pyeritz@uphs.upenn.edu
Publications
Links
Search PubMed for articles
Chief, Division of Medical Genetics
Penn Center for the Integration of Genetic Healthcare Technologies (CIGHT)
Search PubMed for articles
Chief, Division of Medical Genetics
Penn Center for the Integration of Genetic Healthcare Technologies (CIGHT)
Education:
S.B. (Chemistry)
University of Delaware, 1968.
A.M, Ph.D. (Biological Chemistry)
Harvard University, 1972.
M.D.
Harvard Medical School, 1975.
Permanent linkS.B. (Chemistry)
University of Delaware, 1968.
A.M, Ph.D. (Biological Chemistry)
Harvard University, 1972.
M.D.
Harvard Medical School, 1975.
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
Song Howard K, Kindem Mark, Bavaria Joseph E, Dietz Harry C, Milewicz Dianna M, Devereux Richard B, Eagle Kim A, Maslen Cheryl L, Kroner Barbara L, Pyeritz Reed E, Holmes Kathryn W, Weinsaft Jonathan W, Menashe Victor, Ravekes William, LeMaire Scott A, : Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium Registry. J Thorac Cardiovasc Surg 143(2): 282-6, Feb 2012.Di Eusanio M, Trimarchi S, Patel HJ, Hutchison S, Suzuki T, Peterson MD, Di Bartolomeo R, Folesani G, Pyeritz RE, Braverman AC, Montgomery DG, Isselbacher EM, Nienaber CA, Eagle KA, Fattori R: Clinical presentation, management, and short-term outcome of patients with type A acute dissection complicated by mesenteric malperfusion: Observations from the International Registry of Acute Aortic Dissection. J Thorac Cardiovasc Surg Feb 2012.
Reiff M, Bernhardt BA, Mulchandani S, Soucier D, Cornell D, Pyeritz RE, Spinner NB: "What does it mean?": Uncertainties in understanding results of chromosomal microarray testing. Genet Med 14(2): 250-8, Feb 2012.
Suzuki T, Isselbacher EM, Nienaber CA, Pyeritz RE, Eagle KA, Tsai TT, Cooper JV, Januzzi JL Jr, Braverman AC, Montgomery DG, Fattori R, Pape L, Harris KM, Booher A, Oh JK, Peterson M, Ramanath VS, Froehlich JB; IRAD Investigators : Type-selective benefits of medications in treatment of acute aortic dissection (from the International Registry of Acute Aortic Dissection [IRAD]). Am J Cardiol 109(1): 122-7, Jan 2012.
Bernhardt BA, Zayac C, Trerotola SO, Asch DA, Pyeritz RE: Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia. Genet Med Jan 2012.
Pyeritz RE: Evaluation of the adolescent or adult with some features of Marfan syndrome. Genet Med 14(1): 171-7, Jan 2012.
Pyeritz RE: The family history: the first genetic test, and still useful after all those years? Genet Med 14(1): 3-9, Jan 2012.
Mortani Barbosa EJ Jr, Pyeritz RE, Litt H, Desjardins B: Vascular Ehlers-Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections. Am J Med Genet A 155A(12): 3090-4, Dec 2011.
Pyeritz RE, Loeys B: The 8th International Research Symposium on the Marfan Syndrome and related conditions. Am J Med Genet A Dec 2011.
Lemaire SA, McDonald ML, Guo DC, Russell L, Miller CC 3rd, Johnson RJ, Bekheirnia MR, Franco LM, Nguyen M, Pyeritz RE, Bavaria JE, Devereux R, Maslen C, Holmes KW, Eagle K, Body SC, Seidman C, Seidman JG, Isselbacher EM, Bray M, Coselli JS, Estrera AL, Safi HJ, Belmont JW, Leal SM, Milewicz DM: Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet 43(10): 996-1000, Oct 2011.