Overview

The Division of Medical Genetics directed by Dr. Dianna Milewicz has a dynamic research and clinical team, which includes a total of 6 faculty – 1 genetics counselor and 5 research faculty. The division is also composed of postdoctoral fellows, graduate students, information technologists, clinical coordinators, and research assistants. The mission of the Division’s clinical and research activity is to understand the genetic basis and underlying disease mechanisms for a wide variety of vascular diseases, including thoracic aortic aneurysms and dissections, cerebrovascular diseases (intracranial aneurysms, Moyamoya disease, and cerebrovascular dissections), and coronary artery disease. Through genetic mapping, association studies, and whole exome and genome sequencing, the division has identified a series of genes for thoracic aortic aneurysms and aortic dissections. In addition, they have identified genes for early onset strokes and coronary artery disease. Mouse models of these vascular disease genes have begun to identify the link between the defective gene and the clinical disease. Identification of this link is the first step for developing molecularly based targeted treatment of these diseases. In addition, clinical studies to determine the clinical complications of the vascular diseases associated with genetic defects have improved the clinical management of families affected with these conditions. Using samples and clinical data from more than 900 families and over 10,000 individuals participating in the division’s research studies, they continue to identify novel genes for vascular diseases, along with cellular and animal models to investigate the disease mechanisms of these defective genes.