Welcome to the Wambach-Cole lab
Our lab is interested in understanding the genetic causes of rare diseases and birth defects among infants and children. Our research goals are to use genomic sequencing technologies including whole exome and genome sequencing, RNASeq and gene expression studies to identify the genetic causes of rare diseases and birth defects among infants and children and to use functional studies to determine the disease mechanisms underlying these rare diseases.
Specifically, our research laboratory focuses on the identification and functional characterization in cell-based systems for genetic disorders of pulmonary surfactant metabolism which cause severe neonatal respiratory failure in term infants and childhood interstitial lung disease (chILD). Surfactant is a phospholipid-protein film that lines alveoli and maintains alveolar expansion at end-expiration. Genetic disorders of surfactant metabolism are caused by pathogenic variants in the SFTPB, SFTPC, ABCA3, NKX2-1 and other genes. Medical treatments for these disorders are limited, and lung transplantation, associated with substantial morbidity and mortality, is the definitive treatment option for progressive respiratory failure. Understanding the disease mechanisms will identify potential therapeutic targets for these diseases.
Learn more about our research…
Jennifer Wambach, MD
Principal Investigator
Jennifer Wambach is a clinically active neonatologist and has a longstanding interest in understanding the genetic causes of birth defects and extreme phenotypes in infants and children. Her research goals are (1) to use genomic sequencing technologies to identify the etiologies of birth defects and extreme phenotypes among infants and children and (2) to use functional studies to determine the disease mechanisms underlying these rare diseases. Specifically, our research laboratory focuses on the identification and functional characterization in cell-based systems for genetic disorders of surfactant metabolism which cause severe neonatal respiratory failure in term infants and childhood interstitial lung disease (chILD) in infants and children.
F. Sessions Cole, MD
Principal Investigator
F. Sessions Cole’s research interests include genetic regulation of neonatal pulmonary surfactant deficiency has been suggested by studies of gender, genetic linkage, recurrent familial cases, targeted gene ablation in murine lineages, and by racial disparity in risk of neonatal respiratory distress syndrome. Successful fetal-neonatal pulmonary transition requires production of the pulmonary surfactant, a phospholipid-protein film that lines alveoli and maintains alveolar patency at end expiration.