# Genomic and Environmental Determinants of Infant Deaths in San Diego County in 2015-2022

> **NIH NIH R01** · RADY PEDIATRIC GENOMICS & SYSTEMS MEDICINE INSTITUTE · 2021 · $717,518

## Abstract

Project Summary
Infant mortality is tracked annually worldwide. Knowledge of causes of infant mortality shapes public health
policy and prioritizes diseases for investments in surveillance, intervention and medical research. As a result,
rates of many causes of infant mortality have declined significantly over the past 50 years. The proposed
research team has pioneered a new way to decrease infant morbidity and mortality associated with 14,000
genetic diseases, called genomic medicine: In it, genome sequencing can provide a genetic disease diagnosis in
as little as 19 hours. Early genetic disease diagnosis in seriously ill infants allows empiric initial treatment to be
replaced with specific evidence-based treatment for that condition. In 9 studies of 681 seriously ill children,
genomic sequencing diagnosed 31%, 21% had consequent changes in treatment, and 13% had changes in
outcome. As a result, genomic medicine is gaining broad acceptance in seriously ill infants. However, for
genomic medicine to decrease infant morbidity and mortality maximally and to anticipate the value of genetic
diagnoses, it is critical to determine the leading genetic causes of infant mortality in the context of other
environmental factors. We propose to use genome sequencing and semi-automated interpretation to identify
genetic diseases associated with 1,000 infant deaths in San Diego County between 2015 and 2022 and to
evaluate potential environmental contributions to those same infant deaths. We will identify potentially
preventable infant deaths by determining those deaths associated with specific genetic diseases for which
targeted interventions are known to reduce mortality. This new knowledge will enable policymakers,
researchers, and clinicians to prioritize those diseases for investments in new, life-saving interventions and
treatments.

## Key facts

- **NIH application ID:** 10129987
- **Project number:** 5R01HD101540-02
- **Recipient organization:** RADY PEDIATRIC GENOMICS & SYSTEMS MEDICINE INSTITUTE
- **Principal Investigator:** CHRISTINA CHAMBERS
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $717,518
- **Award type:** 5
- **Project period:** 2020-04-01 → 2025-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10129987

## Citation

> US National Institutes of Health, RePORTER application 10129987, Genomic and Environmental Determinants of Infant Deaths in San Diego County in 2015-2022 (5R01HD101540-02). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10129987. Licensed CC0.

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