A primary focus of the Norris lab is to deal with basic questions in formation of the cardiac valves and pathological processes that result in valve disease. The overall design follows a “cycle of discovery” that begins with the clinical condition, identifies gene candidates, and explores their mechanism of action. These mechanistic studies, in turn, point to related pathways for further gene discovery. Through an international consortium of clinicians and scientists, our group has identified genetic and biological causes for common cardiac disease, e.g. mitral valve prolapse and bicuspid aortic valve disease.
Our ongoing projects have defined that these genes play a crucial role during the development of the valves, essentially laying the blueprint for valve construction. Thus, inherited heart valve disease is caused by inborn errors in the development of this structure. By studying these disease genes we can gain an understanding for how the valve develops and why valve defects occur. Harnessed with this information, targeted therapeutics can be developed that may be of benefit to patients with valvular heart disease, thus allowing us to complete the “cycle of discovery”.