Congenital heart disease is one of the most common birth defects, affecting up to 1% of live births. Despite its prevalence, the causes of congenital heart disease are not well understood. A genetic contribution is strongly suggested by the finding that congenital heart disease often occurs in conjunction with chromosome anomalies. To elucidate the genetic basis for human congenital heart disease, we are undertaking a large scale mouse mutagenesis screen to recover mutations in mice causing congenital heart disease. In parallel to these mouse studies, we have an ongoing IRB approved human clinical study protocol to investigate the genetic causes of human congenital heart disease. These studies entail the use of state of the art high throughput next generation sequencing technology to identify genes that may contribute to human congenital heart disease. As part of this study, we are also investigating whether defects involving the cilia, motile or nonmotile hair-like protrusions on the cell surface, may play an important role in human congenital heart disease and in respiratory complications associated with these patients. The long-term goal of these studies is to elucidate the genetic causes of human congenital heart disease to optimize patient care and help improve the prognosis of children and surviving adults with congenital heart disease. This may include the development of new comprehensive genetic tests for the diagnosis of congenital heart disease and changes in the standard of care to include screening for ciliary dysfunction and better clinical management of patients at risk for respiratory complications due to ciliary dysfunction.
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