Inherited deficiencies in any one of 3 genes (surfactant protein B, surfactant protein C, and
ATP-binding cassette transporter A3) can cause neonatal respiratory distress syndrome by
disrupting metabolism of the pulmonary surfactant. The investigators will use state of the
art methods to link specific changes in the genetic code of each of these genes with
disruption of discrete steps in the metabolism of the pulmonary surfactant in human newborn
infants. These studies will lead to improved diagnostic capabilities and suggest novel
strategies to correct surfactant deficiency in newborn infants.
Details
Lead Sponsor:
Washington University School of Medicine
Collaborator:
National Heart, Lung, and Blood Institute (NHLBI)
Treatments:
Pulmonary Surfactant-Associated Protein B Pulmonary Surfactant-Associated Protein C Pulmonary Surfactant-Associated Proteins Pulmonary Surfactants