Molecular Genetics of Thoracic Aortic Aneurysm Disease

John Elefteriades, MD and his research team at the Aortic Institute are conducting advanced molecular genetic testing for thoracic aortic aneurysm disease. This service is provided to patients as a clinical test, which is run by the Department of Genetics in a lab headed by Allen Bale, MD. Genetic testing is performed via whole exome sequencing, which is a very modern high-precision test that analyzes every letter in the genetic sequence of all the protein coding regions of the DNA. Knowing the exact genes that cause this disease enables us to identify individuals who either harbor an aneurysm or are at risk of developing one in the future. In addition, knowing the gene that causes the aneurysm in a particular patient permits us to implement “personalized care”, where a treatment strategy depends on severity of the disease, which in turn depends on the specific defective gene in that particular individual. Patients with certain genetic mutations might require prophylactic surgery earlier and a smaller aortic size. For more information, see the following two scientific articles: Article 1 and Article 2.

In addition, the research team is working on developing an RNA-based simple blood test that can determine whether a patient harbors a thoracic aneurysm or not. This test has been shown to be 85% accurate in identifying patients with this disease. It is hoped that after further validation studies this test may become a widely applied screening test, like the PSA test for prostate cancer. For more information, see this scientific article.

While these and other studies at Yale are exciting and groundbreaking, much more needs to be done to prevent and treat this silent killer. Your philanthropy can help make that possible. In fact, because of the difficult economic landscape surrounding health care, your generosity has never been more important than today.

If you are interested in learning more about the work we are doing at Yale, please feel free to contact Michelle D'Amore, Sr. Development Officer, Major Gifts, Heart and Vascular at 203-688-4035.