Lurie Children’s Study to Link Genetics and Long-Term Cardiorespiratory Outcomes of Children Born Prematurely for More Precise Diagnosis and Treatment

Infants born more than three months prematurely are at high risk for lung disease – called bronchopulmonary dysplasia (BPD) – that often persists through childhood, manifesting as wheezing or abnormalities in lung or heart function. Currently this imprecise diagnosis is based solely on clinical features, and it is impossible to predict how the disease will evolve in the long term, which limits opportunities for early intervention. To improve diagnosis and treatment, a new study at Ann & Robert H. Lurie Children’s Hospital of Chicago, funded by $7.6 million from the National Institutes of Health (NIH), will use AI/machine learning to identify disease subtypes that are based on genetic data and associated outcomes. 

“Our study will investigate genetic influence on long-term cardiac and respiratory outcomes of premature infants, in order to identify genetic pathways that correspond to high likelihood for specific outcomes, such as asthma or cardiac dysfunction,” said Principal Investigator Aaron Hamvas, MD, Division Head of Neonatology at Lurie Children’s and Professor of Pediatrics at Northwestern University Feinberg School of Medicine. “We hope that our results will lead to genetic testing in the neonatal intensive care unit and allow earlier interventions according to the disease subtype. This advance may transform the trajectory of lung disease in premature infants.”

The four-year study will assemble almost 2,000 patients who were premature infants and enrolled in studies while in neonatal care, who have genetic data available, and who are now enrolled in studies at school-age. Researchers will use AI/machine learning to analyze the genetic and clinical data from these patients, in order to establish disease subtypes that would help predict longer-term cardiorespiratory outcomes early in the course of neonatal care. 

“Our results also will allow more insight into the genetic mechanisms that determine outcomes, so that we might develop more effective means to treat or prevent these lung diseases early on,” said Dr. Hamvas, who holds the Raymond & Hazel Speck Berry Board Designated Professorship in Neonatology at Lurie Children’s.

Ann & Robert H. Lurie Children’s Hospital of Chicago is a nonprofit organization committed to providing access to exceptional care for every child. It is the only independent, research-driven children’s hospital in Illinois and one of less than 35 nationally. This is where the top doctors go to train, practice pediatric medicine, teach, advocate, research and stay up to date on the latest treatments. Exclusively focused on children, all Lurie Children’s resources are devoted to serving their needs. Research at Lurie Children’s is conducted through Stanley Manne Children’s Research Institute, which is focused on improving child health, transforming pediatric medicine and ensuring healthier futures through the relentless pursuit of knowledge. Lurie Children’s is the pediatric training ground for Northwestern University Feinberg School of Medicine. It is ranked as one of the nation’s top children’s hospitals by U.S. News & World Report.