Research

The Division of Medical Genetics has several research initiatives. All faculty members focus on clinical and translational research in hereditary disorders. Major interests include the genetics of cardiovascular diseases, urogenital cancers and syndromes that predispose to cancer.

Penn Center for the Integration of Genetic Healthcare Technologies (Penn CIGHT)

The Penn Center for the Integration of Genetic Healthcare Technologies (Penn CIGHT) addresses a fundamental irony of modern medical genetics practice: as the ability to analyze an individual's genome becomes more refined, the clinical uncertainty surrounding the results often increases. Current projects address:

  • Long-term behavioral impact of genetic counseling and testing for BRCA1/2 in African-American women.
  • Assessment from the perspectives of patients, providers and third-party payers of the utility of a genetic test to identify the likelihood of developing hereditary hemorrhagic telangiectasia.
  • Exploration of the implications of receiving array-based cytogenomic test results and the uncertainty the results create for patients, their families and their healthcare providers.

GenTAC

One of the major focuses of the Division of Medical Genetics is genetic disorders that affect the cardiovascular system. Diseases that affect the aorta — the largest blood vessel in the body — occupy much of our attention in patient care, research and education. Penn was fortunate in 2007 to be named one of five sites nationally to participate in a project sponsored by the National Heart, Lung and Blood Institute (NHLBI) to address aortic disease. This project, termed GenTAC for Genetically Triggered Thoracic Aortic Aneurysms & Cardiovascular Conditions, is a national registry stimulated by doctors, scientists, people with genetic disorders, families predisposed to aortic diseases and the NHLBI.

The goal of GenTAC is to collect anonymous medical data and biological samples that qualified investigators can use for research. In just a few short years, projects already completed include a review of surgical practices currently being used to treat aneurysms, a search for new genetic markers that predict occurrence of aneurysms, and an examination of other organs affected in people with certain aortic conditions.

The principal investigator of the Penn site is Reed Pyeritz, MD, PhD, and the co-principal investigator is Joseph Bavaria, MD, professor of surgery. This project is currently recruiting participants. If you are interested, and have any of the conditions listed below, please contact Tamera Means at tamera.means@uphs.upenn.edu to see if you are eligible.

List of conditions:

  • Marfan syndrome
  • Turner syndrome
  • Ehlers-Danlos syndrome
  • Loeys-Dietz syndrome
  • Shprintzen-Goldberg syndrome
  • Bicuspid Aortic Valve
  • A family history of aneurysms and dissections of the aorta

IRAD

The University of Pennsylvania is one of 19 sites around the world participating in IRAD — the International Registry of Acute Aortic Dissection. This project, active for more than a decade, enrolls people who are unfortunate to have suffered a sudden tear in the wall of their aorta. Dozens of important research papers have been published based on data accumulated by IRAD.

The principal investigators of the Penn site are Reed Pyeritz, MD, PhD, professor of medicine and genetics, and Joseph Bavaria, MD, professor of surgery. For more information, please contact Lisa Walsh at lisa.walsh@uphs.upenn.edu.