Jay LAB
Our lab studies the genetic and molecular mechanistic bases of pediatric heart disease, including both defects of anatomy and function. Significant congenital heart defects occur in about 0.5% of all births and is a leading cause of childhood death in the United States. Twice as many children die from heart defects than from all forms of cancer combined. Heart disease in children generally results from fundamental defects in cardiac development or function. Pediatric cardiology patients also suffer cardiac conduction defects and heart failure, which often result from fundamental defects in cardiac biology. Thus, understanding mechanisms of pathogenesis may suggest new strategies to treat heart disease in both children and adults.
Our lab uses an interdisplinary approach to elucidate the pathways and interactions by which mutations of Nkx2-5 lead to heart disease. Nkx2-5 is a transcription factor that regulates cardiac development from fly to man. The Drosophila homolog tinman is essential to specify the heart tube. Homozygous deletion in mice causes arrest of cardiac development and lethality at embryonic day 9.5 when the heart tube is in the process of looping. Heterozygous mutations in man cause congenital heart defects and atrioventricular block and is associated in some cases with heart failure. Ongoing projects in the lab address the mechanisms of each of these human conditions in mouse, cell culture and computational models.
Related Links
Contact Information
Patrick Y. Jay, M.D., Ph.D.
Washington University School of Medicine
McDonnell Pediatrics Research Building
660 S. Euclid Avenue Box 8208
St. Louis, MO 63110
email address: jay_p@kids.wustl.edu
Jay LAB
Our lab studies the genetic and molecular mechanistic bases of pediatric heart disease, including both defects of anatomy and function. Significant congenital heart defects occur in about 0.5% of all births and is a leading cause of childhood death in the United States. Twice as many children die from heart defects than from all forms of cancer combined. Heart disease in children generally results from fundamental defects in cardiac development or function. Pediatric cardiology patients also suffer cardiac conduction defects and heart failure, which often result from fundamental defects in cardiac biology. Thus, understanding mechanisms of pathogenesis may suggest new strategies to treat heart disease in both children and adults.
Our lab uses an interdisplinary approach to elucidate the pathways and interactions by which mutations of Nkx2-5 lead to heart disease. Nkx2-5 is a transcription factor that regulates cardiac development from fly to man. The Drosophila homolog tinman is essential to specify the heart tube. Homozygous deletion in mice causes arrest of cardiac development and lethality at embryonic day 9.5 when the heart tube is in the process of looping. Heterozygous mutations in man cause congenital heart defects and atrioventricular block and is associated in some cases with heart failure. Ongoing projects in the lab address the mechanisms of each of these human conditions in mouse, cell culture and computational models.
Related Links
Contact Information
Patrick Y. Jay, M.D., Ph.D.
Washington University School of Medicine
McDonnell Pediatrics Research Building
660 S. Euclid Avenue Box 8208
St. Louis, MO 63110
email address: jay_p@kids.wustl.edu