Leslie Smoot's research focuses on the genetics of Congenital Cardiovascular Disease. The familial clustering of congenital heart disease (CHD) has long suggested a role for genetic mutations, but the extent to which mutations contribute is poorly defined. In a few cases disease genes have been identified by linkage analysis in extended pedigrees, but the rarity of large, affected families limits the pace of discovery. In contrast, significant progress has been made in transgenic and knockout mouse models of cardiac development, suggesting new candidate genes for human CHD.
As molecular mechanisms underlying cardiovascular development become elucidated, they are likely to have both medical and reproductive implications. With improved surgical palliation of congenital heart disease, caregivers are faced with new challenges associated with childbearing, not the least of which includes recurrence risk. Research performed in this area may help provide individual families with recurrence risks based on genetic rather than empiric data, and may elucidate additional non-cardiac roles for the candidate genes analyzed.
About Leslie Smoot
Dr. Smoot received her MD from the University of Minnesota School of Medicine, followed by a Pediatric Cardiology Fellowship at Children's Hospital, Boston.