In this research, we would like to exploring the genomic basis of the co-morbidity of common birth defects and their effects on long-term health outcomes
Birth defects are a great threat to the human health worldwide. Genomic variations have been identified as important pathogenic factors for common birth defects such as congenital heart defect (CHD), congenital anomalies of the kidney and urinary tract (CAKUT), and neurodevelopmental disorders (NDD). Based on these evidences, developmental defects associated with the heart, kidney, and brain should share common genetic mechanisms. In this research, we would like to exploring the genomic basis of the co-morbidity of common birth defects and their effects on long-term health outcomes
CHD is the most common congenital anomaly worldwide, with an incidence of 6~13 in 1000 live births. Despite advances in surgical correction and clinical care guaranteed most patients surviving to adults, CHD remains a major cause of new born-related mortality. CAKUT occur with an incidence of 1 in 500 newborns, accounting for 20!~!30% of congenital anomalies in the prenatal period. CAKUT has been identified as the leading cause of childhood end-stage renal disease, and predispose to the development of cardiovascular disease and hypertension in adulthood. It’s worth noting that these CHD and CAKUT are usually associated with NDD, which has nonnegligible impact on the life quality on the patients survived from surgery. Genomic variations underlying the co-morbidity of these birth defects has been continuously identified recently, whereas, few studies have been conducted to evaluate their effects on long term health in large populations. Through applying of gene chips/high throughput sequencing on several hundred of probands/Trios, we identified a batch of candidate genomic variations associated with the disease. We would like to verify the association of these genomic locus in large populations and explore that how the genomic variations which have been associated with multiple birth defects would affect the long-term human health.
In order to prevent birth defects or nursing the patients, we need to clarify the genetic basis underlying the diseases. Since the common birth defects CHD, CAKUT, and NDD, which involves the important organs heart, kidney, and brains, have genomic basis of co-morbidity. We would like to reveal the association of these genomic variations with clinical phenotypes and biomarkers and the impact of these genomic variations on human health.
