Joseph W. Turek, MD, PhD, MBA

My research focuses on understanding a new mechanism by which the aorta enlarges in a life-threatening manner in patients with Marfan syndrome (MFS). MFS is a genetic condition that predisposes to aortic enlargement, or aneurysm, that can lead to life-threatening rupture or tearing of the vessel. I am currently investigating a new pathway which appears to contribute to aneurysms in this genetic condition. I have developed a model of accelerated aneurysm growth in mice genetically engineered to have MFS. All of these mice form significant aneurysms in just two weeks. When these mice are treated with the drug (Losartan) currently used in human MFS patients to prevent aneurysm growth, aortic growth is slowed, yet still present. Importantly, adding a second drug to the treatment regimen (which blocks a different receptor protein) almost completely stops the aneurysms from forming. It is my objective to understand new mechanisms by which aortic enlargement progresses in patients with MFS. This knowledge has the potential to reveal unique therapeutic targets to combat the devastating aortic pathology in MFS. I feel the most effective future therapy for our MFS patients will involve multi-drug regimens targeting these important alternate signaling pathways.