The University of Pennsylvania
The University of Pennsylvania (PENN) team includes the Hospital of the University of Pennsylvania (HUP), the Children’s Hospital of Philadelphia (CHOP), and many outpatient practice sites in the Delaware Valley. Patients of all ages, races, and socioeconomic status and with thoracic aortic aneurysms are seen primarily in the divisions of cardiothoracic surgery, cardiovascular medicine, and medical genetics at HUP. The Division of Medical Genetics at the University of Pennsylvania is dedicated to the comprehensive evaluation and management of children and adults with Marfan Syndrome (MFS) and related conditions. The Division provides coordinated multidisciplinary care, including diagnosis, genetic testing, education, genetic counseling, management, and support. Physicians participating in this coordinated care include specialists in cardiology, cardiovascular surgery, medical genetics, obstetrics and gynecology, ophthalmology, orthopedics, and radiology. These physicians have experience treating patients with MFS and related disorders.
Reed E. Pyeritz, MD, PhD
GenTAC Principal Investigator
Reed E. Pyeritz, MD, PhD, is the current PI for the GenTAC PENN site. Dr. Pyeritz is chief of the Division of Medical Genetics at HUP and professor of medicine and genetics at the University of Pennsylvania. He is board certified in internal medicine and clinical genetics and is an elected member of the American Society of Clinical Investigation and the Association of American Physicians. He founded the National Marfan Foundation and continues to serve on its Professional Advisory Board. He chairs the Medical Advisory Board of the Canadian Marfan Association. Dr. Pyeritz was one of the founders of the American College of Medical Genetics and became its second president. Dr. Pyeritz is the co-editor of Principles and Practice of Medical Genetics, currently in its fifth edition. His entire academic focus has been on hereditary disorders that affect the cardiovascular system, especially the aorta. During the 30 years he has been studying MFS, life expectancy has increased from four to seven decades. Much of Dr. Pyeritz’s more than 400 peer-reviewed articles, reviews, and chapters in textbooks deal with MFS; he also has published a number of articles on clinical and translational research about other hereditary disorders affecting the aorta. In his outpatient clinic, Dr. Pyeritz routinely sees patients with MFS, various types of EDS, Loeys-Dietz syndrome, Turner syndrome, Shprintzen-Goldberg syndrome, familial aortic dissection and aneurysm, and BAV with aortic dilatation. In addition, he writes or co-writes the chapters on the genetics of cardiovascular disease and MFS in the leading textbooks of medicine, cardiology, and genetics (e.g., Cecil; Braunwald; Topol; Emery and Rimoin). Dr. Pyeritz is the University of Pennsylvania PI for the International Registry of Acute Aortic Dissection.
Karianna (Rita) Milewski, RPh, MD, PhD
Karianna (Rita) Milewski, RPh, MD, PhD is a clinical assistant professor of surgery in the Division of Cardiothoracic Surgery at the University of Pennsylvania School of Medicine and serves as a co-investigator for GenTAC. She completed her PhD in molecular genetics, an Aortic Surgery Fellowship at HUP, and two business certificates for business essentials and entrepreneurship which provided her with the skills necessary to manage a laboratory. Dr. Milewski’s main areas of expertise are in aortic surgery, including endovascular and percutaneous valves. She also supervises both heart and lung organ procurements at HUP. She is currently conducting both clinical and basic science aortic research. Dr. Milewski is initiating a Translational Center for Aortic Diagnosis and Therapeutic Intervention.
Joseph Bavaria, MD
Joseph Bavaria, MD, is the vice chief, Division of Cardiothoracic Surgery and professor of surgery at HUP and serves as a co-investigator for GenTAC. He is the director of HUP’s Complex Aortic Surgery Program, which is a multidisciplinary program encompassing all aspects of aortic disease, including thoracic aortic reconstruction. His primary interests include thoracic aortic surgery and, more broadly, cardio-aortic surgery. This includes aortic dissection; aortic root and ascending aortic reconstruction; aortic arch surgery; and the circulation management necessary for successful aortic arch clinical outcomes. Each year, Dr. Bavaria’s thoracic aortic surgery program at the University of Pennsylvania performs more than 300 reconstructive procedures and manages more than 1,500 patients in the Aortic Surgery Clinic. He leads an active cardio-aortic clinical research group and is both the national and the institutional primary investigator in more than 15 industry-sponsored U.S Food and Drug Administration Investigational Device Exemptions Phase I, II, and III trials.
Amber Ashley Parker
Amber Ashley Parker, BA, joined the University of Pennsylvania team in October 2011 as the lead clinical research coordinator for UPenn’s GenTAC site. She is responsible for the coordination of the GenTAC project objectives at UPenn; recruitment of new patient-subjects; biospecimen collection of patient-subjects; maintenance and security of patient-subject records and materials; and fulfilling the mission of the GenTAC project. Ms. Parker graduated from the College of Arts and Sciences, at the University of Pennsylvania, May 2011, receiving a bachelor’s degree in health and societies, with a concentration in bioethics and society. Upon her graduation she was also the recipient of two minors—(1) a dual minor in healthcare management from the Wharton School of Business and biological basis of behavior from the College of Arts & Sciences and (2) classical studies, College of Arts & Sciences. Although Ms. Parker’s originating interest in medicine was sparked by the field of human genetics, she is also pursuing research in neuropsychiatry at UPenn; investigating the speech patterns and linguistics of bipolar and schizophrenic patients with Dr. Christian Kohler, Neuropsychiatry Division, Psychiatry Department, Hospital of the University of Pennsylvania.