Dr. Hamvas has a longstanding interest in genetic contributions to lung diseases that affect newborns, children and adults, he has combined his clinical interests in the care of newborn respiratory diseases with an integrated investigative program to understand the modifiable factors that influence outcomes of newborns.

Mutations in pulmonary surfactant associated genes result in newborn respiratory distress but can also contribute to idiopathic pulmonary fibrosis in adults. We use exome sequencing to identify genes and gene pathways that might inform variability in penetrance of these mutations and also provide further insights into the development of chronic lung disease (bronchopulmonary dysplasia) in premature newborns. We are also part of an NIH-funded clinical observational study that combines analysis of continuous physiologic data streams, echocardiographic measures, and measures of autonomic nervous system function to identify physiologic perturbations that have an impact on cardiac, respiratory, and neurologic outcomes of premature babies.

Diffuse lung diseases in newborns and children