Our laboratory studies the genetics of vascular diseases, including a set of diseases characterized by a process known as “arterial dysplasia,” leading to phenotypes such as fibromuscular dysplasia, spontaneous coronary artery dissection, visceral artery aneurysms, and other typically non-aortic arterial aneurysms and dissections. The manifestations of these arterial processes include resistant hypertension, stroke, heart attack, organ and limb malperfusion, and sudden death. We study more general forms of hypertension as well. We use gene discovery methods such as genome sequencing and statistical genetic methods, as well model systems to understand these diseases, using a variety of tools to study aspects of fibrosis, vascular biology, as well as mRNA transcription and translation in the arterial wall. We have identified both “monogenic” and polygenic, complex genetic inheritance of these disorders, and we continue to expand our understanding of these genetic factors. Our current efforts are focused further clarifying the genetic basis of these diseases by conducting mechanistic studies to understand the functional basis of these discoveries and their translational potential.
