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Research & Innovation | Overview

The Neonatal Genomics Program at Boston Children’s is focused on determining the genetic and molecular basis of congenital and other diseases in infants.

Gene discovery

We have been at the forefront of novel gene discoveries within the Boston’s Children’s Neonatal Intensive Care Unit (NICU), with collaboration from the Gene Discovery Core of the Manton Center for Orphan Disease Research and Agrawal Laboratory, to genome sequencing, RNA sequencing, and cellular/animal modeling to decipher the genetic basis of neonatal diseases that are rare and poorly understood.

Neonatal Biobank

We have established a first-of-its-kind biobank to collect, store, and process DNA and RNA samples collected specifically from infants in Boston Children’s NICU who may have a genetic disorder. These include infants born with various surgical conditions such as esophageal atresia, gastroschisis, and omphalocele, or unexplained pulmonary hypertension.

Expanding genomic services to Level III NICUs by creating a Virtual Genome Center (VIGOR)

The goal of this project is to achieve equitable access to state-of-the-art genomic medical care to sick newborns in community medical centers that predominately care for low-income and racial/ethnic minority populations. VIGOR will provide a venue for physician and family education, genomic expert consultation, reanalysis of unsolved sequencing data, and access to cutting-edge therapeutic innovation, facilitating institutionalization of genomic best practices in community settings. The project is funded by the National Human Genome Research Institute and the National Institutes of Health from 2021-26.

Precise therapies

As the capacity for genetic diagnosis continues to improve, infants are increasingly being identified as eligible for targeted therapies — the goal of precision medicine. We are actively identifying patients who may benefit from this approach, including those who may be eligible for antisense oligonucleotides, gene therapy, and CRISPR-based approaches.

Neonatal Genomics Program | Contact Us

Contact the Neonatal Genomics Program