GenTAC is a national registry of patients with genetic conditions that may be related to thoracic aortic aneurysms. The information collected through the registry will help doctors and researchers better understand the link between genes and aortic aneurysms and heart disease. GenTAC will also enable research to determine the best ways to manage the complications of cardiovascular disease that can arise from some genetic disorders. Better understanding and more research will lead to better treatment. Samples and data are made available to qualified investigators to enable research to determine best medical practices and to advance the clinical management of genetic thoracic aortic aneurysms, and other cardiovascular complications.

Penn enrolls GenTAC participants »

Cardiomyopathy, a weakening of the heart muscle often associated with inadequate heart pumping, affects tens of thousands of people in the United States. Researchers have discovered a new molecular pathway controlled by a master-switch protein in the heart muscles called myocardin that may be key to understanding some forms of heart disease. This pathway links heart muscle structure to heart-cell survival.

The discovery, published in the Proceedings of the National Academy of Sciences, provides new insights into the molecular program that controls how heart cells differentiate in a developing embryo and mature, and more importantly, identifies myocardin-activated genes as candidates that may underlie some forms of heart failure and cardiomyopathy.

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Neurofibromatosis type I (NF1), also known as von Recklinghausen disease, is one of the most common inherited genetic disorders in humans. Symptoms include curvature of the spine, skin spots, learning difficulties, epilepsy, as well as cardiovascular problems. Researchers led by Jonathan Epstein, MD, Chairman of Penn’s Department of Cell and Developmental Biology and Scientific Director of the Penn Cardiovascular Institute, developed a zebrafish model for NF1, which will advance the ability to perform high-throughput chemical screening for new compounds that may one day become treatments. They recently published their findings in the Proceedings of the National Academy of Sciences.

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Some rare diseases are caused by a single change in one gene while other common diseases like obesity, coronary artery disease, and diabetes may be caused by several genes working together. The Complex Genetics Initiative hopes to learn about the genetic causes of these diseases and how different people respond to medications and treatments. The Genetics of Cardiovascular and Metabolic Phenotypes Study seeks to identify genes involved in complex cardiovascular disorders by developing a DNA bank. Over the next five years 100,000 adult volunteers seeking clinical care at the University of Pennsylvania Health System (UPHS) will be invited to join the study.

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NHLBI Awards $2.4M Recovery Act Grant to Penn’s Dan Rader »

One of the trickiest issues in prescribing medicine is how to quickly optimize each patient’s dosage of the common blood-thinning drug warfarin. New research shows DNA tests can help predict the right dose of the popular blood thinner, but whether such personalized medicine yields concrete benefits remains to be determined. "With growing evidence on how certain genes affect the way individual patients respond to warfarin, we are now ready to move forward with a major clinical trial to test these strategies," said NHLBI Director Dr. Elizabeth G. Nabel. The multisite Clarification of Optimal Anticoagulation through Genetics (COAG) trial is coordinated by the University of Pennsylvania Perelman School of Medicine.

The COAG Clinical Trial »