Wambach Lab

Decoding the genetic causes of rare childhood diseases through cutting-edge genomics, our lab is committed to uncovering the molecular basis of severe conditions and birth defects in infants and children. Using advanced sequencing technologies such as whole exome and genome sequencing, RNASeq and gene expression profiling, we identify pathogenic variants and investigate their functional impact. Our focus on disorders of pulmonary surfactant metabolism, including genes like SFTPB, SFTPC, ABCA3 and NKX2-1, aims to reveal new therapeutic targets and improve outcomes for children facing life-threatening respiratory diseases.