 | Reed Pyeritz William Smilow Professor of Medicine and Professor of Genetics - University of Pennsylvania Medicine |
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01.07.2016-29.07.2016
A History of Uncertainty in Genomic Medicine
Reed Pyeritz earned his MD and PhD at Harvard, trained in medicine at the Peter Bent Brigham Hospital in Boston and at the Johns Hopkins Hospital in Baltimore. He is board-certified in internal medicine and medical genetics. Currently he is the William Smilow Professor of Medicine at the University of Pennsylvania where he sees patients with hereditary cardiovascular conditions, teaches undergraduate, graduate and professional students, and conducts research. His research is in two main areas. First, he studies the genetic basis of, and treatment for, diseases that affect the aorta, such as Marfan syndrome. Second, he focuses on the bioethics of the application of genomics to medicine. In particular, he is defining the history and scope of uncertainty and whether a duty exists to re-contact patients when the interpretation of molecular genetic testing changes. -
02.03.2011-30.08.2011
Defining and coping with uncertainty in the application of genetics to medicine
Reed Pyeritz completed his Ph.D. and M.D. at Harvard and trained in internal medicine at the Peter Bent Brigham Hospital in Boston and medical genetics at the Johns Hopkins Hospital in Baltimore. He is Professor of Medicine and Genetics at the University of Pennsylvania School of Medicine in Philadelphia, where he directs the Center for the Integration of Genetic Healthcare Technologies. His research has focused on several areas, including clinical investigations of heritable disorders of connective tissue and diseases affecting the thoracic aorta. Currently he is studying how more refined methods of investigating genetic variation, such as cytogenomic arrays and whole genome sequencing, actually increase the level of uncertainty in applying the results clinically. During his 2011 sabbatical at the Brocher Foundation he is writing a book on the interface of genomics and personalized medicine.
I am a medical geneticst with a focus on heritable disorders of the cardiovascular system. My research deals with discovering and utilizing genes that predispose to aortic disease, and the concept of uncertainty and its impact on genetic counseling.
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