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Reed E. Pyeritz, MD, PhD

Reed E. Pyeritz, MD, PhD Physician

William Smilow Professor Professor of Genetics

Dr. Pyeritz is employed by Penn Medicine.

About Dr. Reed E. Pyeritz

Recognized by America's Top Doctors, 2007 - 2010, and 2012 - 2018

Recognized by Best Doctors in America 2005 - 2018

Recognized annually in Philadelphia magazine's Top Docs issue from 2004 to 2019

Patient Satisfaction Ratings

Patient Rating Breakdown

The Patient Satisfaction Rating is an average of all responses to the care provider related questions shown below from our nationally-recognized Press Ganey Patient Satisfaction Survey. Patients that are treated in outpatient or hospital environments may receive different surveys, and the volume of responses will vary by question.

Responses are measured on a scale of 1 to 5 with 5 being the best score.

Comments are submitted by patients and reflect their views and opinions. The comments are not endorsed by and do not necessarily reflect the views of Penn Medicine.

Overall Ratings

Clinical Specialties


  • Medical Genetics

Programs & Centers:

Board Certification:

  • Internal Medicine, 1978
  • Medical Genetics - Clinical Genetics, 1982

Clinical Expertise:

  • Alpha-1 Antitrypsin Deficiency
  • Alport Syndrome
  • Arteriovenous Malformations (AVM)
  • Autism
  • Birth Defects and Disorders
  • Blood Disorders
  • Bone Diseases
  • Cardiomyopathy
  • Cataracts
  • Cerebral Palsy (CP)
  • Charcot Marie Tooth Disease (CMT)
  • Chronic Granulomatous Disease
  • Congenital Adrenal Hyperplasia
  • Congenital Heart Defects
  • Connective Tissue Disorders
  • Cystic Fibrosis
  • Diabetes
  • Diaphragmatic Hernia
  • DiGeorge Syndrome
  • Dilated Cardiomyopathy
  • Down Syndrome
  • Dwarfism
  • Dystonia
  • Epilepsy
  • Fetal Alcohol Syndrome
  • Fibrodysplasia Ossificans Progressiva (FOP)
  • Fracture
  • Genetic Counseling
  • Genetic Testing
  • Glaucoma
  • Hearing Loss
  • Hemophilia
  • Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
  • Hypertrophic Cardiomyopathy
  • Immunologic Deficiency Disorders
  • Infertility
  • Inherited Genetic Disorders
  • Intellectual Disability
  • Kidney Polycystic Diseases
  • Leber Congenital Amaurosis (LCA)
  • Leg Swelling (Edema)
  • Liver Cirrhosis
  • Marfan Syndrome
  • Metabolic Acidosis
  • Muscular Dystrophy
  • Neural Tube Defect Screening
  • Neuropathy
  • Obesity
  • Osteoporosis
  • Polydactyly
  • Prenatal Genetic Counseling
  • Preventive Medicine
  • Rash
  • Shwachman-Diamond Syndrome
  • Skeletal Disorders
  • Skin Disorders
  • Skin Pigmentation Disorders
  • Syndactyly
  • Thumb Hypoplasia
  • Tuberous Sclerosis
View More

Practice Locations and Appointments

Insurance Accepted

  • Aetna US Healthcare
  • Amerihealth Caritas
  • Amerihealth Caritas Medicare
  • Cigna
  • Cigna HealthSpring
  • Clover Health Plan
  • CVS Health
  • Devon Health Services (Americare)
  • eLAP Services
  • Gateway Health Plan
  • Geisinger Health Plan
  • HealthAmerica / HealthAssurance, a Coventry Plan
  • HealthPartners
  • HealthPartners Medicare
  • HealthSmart
  • Highmark Blue Shield
  • Homestead Smart Health Plans
  • Horizon Blue Cross Blue Shield of New Jersey
  • Humana / Choicecare
  • Independence Blue Cross (Keystone East)
  • Intergroup
  • Keystone First
  • Keystone First Medicare
  • Multiplan
  • NJ Medicaid
  • NJ Qualcare
  • Oxford Health Plan
  • PA Health and Wellness (Centene) Medicare
  • PA Medicaid
  • PA Medicare
  • Preferred Health Care/LGH
  • Provider Partners Health Plan
  • Rail Road Medicare / Palmetto GBA
  • Remedy Partners at Penn Medicine
  • Tricare
  • United Healthcare
  • UnitedHealthcare Community Plan
  • US Family Health Plan
  • Veterans Choice Program

Education and Training

Medical School: Harvard University
Residency: Peter Bent Brigham Hospital
Fellowship: Johns Hopkins Hospital


American Association for the Advancement of Science, National American Board of Medical Genetics, National American College of Medical Genetics Foundation, National American College of Medical Genetics, National American College of Physicians, National American Federation for Medical Research, National American Medical Association, National American Society for Clinical Investigation, National American Society of Human Genetics, National Association of American Physicians, National Association of Professors of Human and Medical Genetics, National Canadian Marfan Association, International Center for Disease Control and Prevention, National Food and Drug Administration, National Hereditary Hemorrhagic Telangiectasia Foundation International, International National Cancer Institute, National National Marfan Foundation, National National Neurofibromatosis Foundation, National National Organization for Rare Disorders, National National Surgical Adjuvant Breast and Bowel Project, National New York State Health Department, Local Office of Technology Assessment, National Osteogenesis Imperfecta, National Capital Area, Local Pittsburgh Regional Science & Engineering Fair, Local Robert Wood Johnson Foundation, National The Jackson Laboratory, Local University of Delaware, Local Venezolano de Medicina Interna, National Wayne State University, Center for Molecular Medicine and Genetics, Local

Hospital Affiliation

Dr. Pyeritz is employed by Penn Medicine.

Hospital Privileges:

  • Hospital of the University of Pennsylvania: Has privileges to treat patients in the hospital.
  • Penn Presbyterian Medical Center: Has privileges to treat patients in the hospital.


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 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).

Selected Publications:

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.

Damrauer SM, Hardie K, Kember RL, Judy R, Birtwell D, Williams H, Rader DJ, Pyeritz RE.: FBN1 Coding Variants and Nonsyndromic Aortic Disease. Circ Genom Precis Med. 2019; Jun;12(6):e002454. doi: 10.1161/CIRCGEN.119.002454. : 2019.

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.

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.

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.

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.

Siddiqi HK, Bossone E, Pyeritz RE, Eagle KA: Chronobiology of acute aortic syndromes. Heart Failure Clin 2017;13:697-701. PMID: 28865779 : 2017.

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.

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: Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial. JAMA. 316 (9): 943-951,2016.

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 (GenTAC). J Am Heart Assoc 5 : 8,2016.

View all publications

Academic Contact Info

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
Phone: (215) 662-4740
Patient appointments: 800-789-7366 (PENN)

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