We are a world-class group of physician-scientists that are dedicated to studying human diseases using state-of-the art technologies at UCSD, all aimed at helping patients (i.e., patient-driven). Using a combination of human and animal genetic model systems, our aim is to unravel the genetic mechanisms of congenital heart disease and cognitive disorders in order to develop improved therapies and ultimately, preventive strategies.
The only basic/translational science lab in the world studying Jacobsen syndrome, combining both a human genetics and animal model approach. By studying JS, what we learn from this rare disorder will have very important implications to a much larger group of patients, e.g., those with congenital heart disease, cognitive impairment and autism. All the research starts with human patients, with the ultimate goal of developing new strategies to improve diagnosis, treat, and potentially prevent these diseases.
University of California San Diego Foundation (EIN 95-6006144), Pediatric Cardiology Jacobsen Syndrome Research Fund (F-4187).