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Genomic Applications in the NICU

We want to utilize the latest genomic and functional technologies to clinical care with the goals of providing rapid diagnosis of genetic diseases in NICU babies, gene discovery, deciphering role of genomic sequencing as a newborn screening tool, therapeutic approaches based on genetic diagnosis, and genetic causes of neonatal death. 

The VIGOR Study is an NIH-funded endeavor coordinated out of Boston Children's Hospital which collaborates with chosen NICUs that serve underserved populations. VIGOR has created partnership between these leading NICUs to develop and implement a novel virtual model for genomic care with the hopes of proving that a model of tele-genomic care is feasible and reproducible to any NICU.

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Recent Related Publications:

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  1. A model to implement genomic medicine in the neonatal intensive care unit

  2. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.

  3. Interpretation of genomic sequencing results in healthy and ill newborns: Results from the BabySeq project

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