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Research & Innovation | Overview

Illustration of gene sequencing

Our innovative research initiatives within the Neonatal Genomics Program at Boston Children’s aim to discover the genetic and molecular basis of rare conditions affecting neonates and infants.

Diagnostic research


To support our ability to make diagnoses in the Neonatal Intensive Care Unit (NICU), we conduct ongoing research, studying data from large populations to identify factors that suggest a genetic diagnosis and to optimize our clinical approaches. We also collaborate with researchers across the hospital who are undertaking genomic sequencing initiatives that pertain to newborns, such as the Epilepsy Genetics Program.

Through a National Institutes of Health-funded research protocol, we also conduct autopsy research to understand the genomic contributions to infant mortality. Finally, we evaluate protocols for incorporating genomic medicine into clinical practice, with an emphasis on outcomes reported by parents.

Gene discovery


We've been at the forefront of novel gene discovery efforts within the Boston’s Children’s NICU, in collaboration with the Gene Discovery Core of the Manton Center for Orphan Disease Research. Our research approaches include genome sequencing, RNA sequencing, and cellular/animal modeling to decipher the genetic basis of many rare conditions.

Neonatal biobank


We have established a first-of-its-kind biobank to collect, store, and process participant samples collected from infants in the Boston Children’s NICU. These samples enable us to conduct molecular studies of common and rare neonatal conditions, an important step in understanding mechanisms of disease and developing treatments. All infants admitted to the NICU are invited to participate in the biobank. Our sample cohorts include infants born with various surgical conditions such as esophageal atresia, gastroschisis, and omphalocele, or unexplained pulmonary hypertension.

Neonatal Genomics Program | Contact Us

Contact the Neonatal Genomics Program