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Spotlight on research:
Molecular genetics of thoracic aortic aneurysm disease
John Elefteriades, MD and his research team, in collaboration with Dr. Olga Iakoubova and colleagues at Celera Genomics in California, are conducting advanced research into the molecular genetics of thoracic aortic aneurysm disease.
They have developed a 31-RNA gene chip that is 85 percent accurate in determining — from a blood test only — whether a patient harbors a thoracic aneurysm. It is hoped that after further testing this gene chip test may become a widely applied screening test, like the PSA test for prostate cancer. The team has also recently identified DNA mutations that produce thoracic aortic aneurysms.
The Aortitic Institute at Yale-New Haven Hospital is one of the first officially designated aortic centers and one of the largest institutions in the world for clinical care of patients with aneurysms. The Institute provides comprehensive management for patients with an aneurysm or aortic rupture. Since 2000, the volume of aneurysm patients has almost doubled, making the Institute one of the most active facilities for treatment of aortic diseases in the country.
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Clinical research
The Institute's investigative, clinical and scientific contributions to the study of thoracic aortic aneurysms are available in more than 75 publications on PubMed, the government resource for scientific medical publications.
A silent stalker
Aortic aneurysms are lethal. Every year more than 15,000 people in the United States die when an aneurysm in the chest or abdomen bursts or dissects- more people than die from AIDS. Albert Einstein, Olympic volleyball champion Flo Hyman, Florida State University basketball player Roland Pierce, Broadway composer of “Rent” Jonathan Larson, and actors Lucille Ball, George C. Scott and John Ritter were all killed by thoracic aortic aneurysms.
Aortic aneurysms are insidious because they are silent stalkers. Ruptures usually kill instantly. The vessel can balloon without causing pain. Most people discover their aneurysms while being tested for something else: a doctor may spot the telltale bulge while performing an ultrasound to investigate a heart murmur or a CT scan to evaluate a chronic cough, for example.
The Aortic Institute is one of the first and and one of the largest centers in the world for clinical care of patients with aneurysms. It is also one of the most active centers for basic science and clinical research in aortic diseases.