O18: BabyFORce: A pioneering program translating variants identified via rapid genome sequencing to targeted therapeutics for neonatal intensive care unit patients

Rapid genome sequencing (rGS) has accelerated the timeline for achieving precision diagnoses in critically ill neonates in the neonatal intensive care unit (NICU). Yet, variants of uncertain significance and pathogenic variants without therapeutic options continue to pose significant challenges. Mapping gene-function relationships offers a promising path for developing diagnostic tools and therapies tailored to individual genetics and environmental contexts. Herein, we introduce Baby Functional Omics Resource (BabyFORce), a pioneering program bridging discovery, translation, and clinical application to develop targeted therapies following rGS for NICU patients.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102094
Primary Topic
Pharmaceutical studies and practices
Type
article
Field-Weighted Citation Impact
0.00
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article

O18: BabyFORce: A pioneering program translating variants identified via rapid genome sequencing to targeted therapeutics for neonatal intensive care unit patients

Natalie F. Downs, Lisa A. Schimmenti, Christopher E. Colby, Filippo Pinto e Vairo et al.
Genetics in Medicine Open
Pharmaceutical studies and practices
article

O18: BabyFORce: A pioneering program translating variants identified via rapid genome sequencing to targeted therapeutics for neonatal intensive care unit patients

Natalie F. Downs, Lisa A. Schimmenti, Christopher E. Colby, Filippo Pinto e Vairo, Eric W. Klee, Whitney Thompson, Nicole Perfito, Laura Lambert, Andrew J. Haak, Brandi Smith, Christopher Moxham, Christopher T. Schmitz
article en

Abstract

Rapid genome sequencing (rGS) has accelerated the timeline for achieving precision diagnoses in critically ill neonates in the neonatal intensive care unit (NICU). Yet, variants of uncertain significance and pathogenic variants without therapeutic options continue to pose significant challenges. Mapping gene-function relationships offers a promising path for developing diagnostic tools and therapies tailored to individual genetics and environmental contexts. Herein, we introduce Baby Functional Omics Resource (BabyFORce), a pioneering program bridging discovery, translation, and clinical application to develop targeted therapies following rGS for NICU patients.

Genetics in Medicine OpenVol. 3
WinnMed (US), Institut Pertanian Stiper (ID)
Openalex Percentile: Top 93%
Pharmaceutical studies and practices
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O18: BabyFORce: A pioneering program translating variants identified via rapid genome sequencing to targeted therapeutics for neonatal intensive care unit patients — Natalie F. Downs, Lisa A. Schimmenti, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS