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My research program focuses on identification and characterization of genes predisposing to neural tube defects (NTDs). NTDs, including anencephaly and spina bifida, represent a group of common congenital malformations affecting 1-2 infants/1000 births. They are caused by failure of neural tube closure during embryogenesis. NTDs have a complex etiology involving both environmental and genetic factors. My group has adopted two main approaches to identify and characterize NTD genes: a candidate gene approach focused on molecular analyses of key genes of noncanonical Wnt/planar cell polarity pathway and a whole exome sequencing approach in NTD families.