Research & Publications
We are interested in using insights gained from the study of human genetic disease to gain a better understanding of molecular mechanisms underlying hypertension and cardiovascular disease. We previously identified a novel Mendelian form of human hypertension exacerbated by pregnancy, and we demonstrated that this disorder is caused by a gain of function mutation in the mineralocorticoid receptor. We have used these findings as a springboard to move our research in two complementary directions. In the first, we are seeking to use information gained from the study of this mutant receptor to improve our understanding of molecular mechanisms of steroid hormone receptor function, and we believe we have uncovered an intramolecular interaction critical to the activity of steroid hormone receptors. We are also pursuing physiologic studies to examine the links between steroid hormones and cardiovascular disease on a tissue–specific level in in vivo models. Finally, we are collaborating with other investigators at Yale to clarify the function of a novel group of renal potassium channels.
Specialized Terms: Hypertension; Cardiovascular disease
Cardiovascular Diseases; Hypertension; Nephrology; Receptors, Mineralocorticoid