# Chromosome 18 Cohort Phenotype Enrichment to Strengthen the Gabriella Miller Kids First Program

> **NIH NIH R03** · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · 2024 · $155,000

## Abstract

Abstract
The chromosome 18 cohort with hemizygous deletions of chromosome 18 who manifest a multitude of
structural birth defects bring an expanded opportunity to the Gabrielle Miller Kids First Pediatric Research
Program (GMKF) (Project number (HD107271-01). This cohort, with known and varied genetic contributors to
those birth defects, will contribute valuable data toward understanding the underlying molecular gene
contributors of a variety of a number of structural birth defects. However, our current phenotypic database
lacks important details about the associated endophenotypes and the outcomes of any treatments. We have a
wealth of data in the existing scanned medical records, survey and questionnaire answers and from our on-site
clinical evaluation records. Additionally we have longstanding relationships with the participating families and
can follow up to verify, get new details, and clarify information. We propose to expand the scope of the curated
data elements, map Human Phenotype Ontology (HPO) terms to those data elements thereby increasing the
value of the data available to the research community. Our plan to enhance the depth and scope of the
phenotype data is to first reevaluate all the existing records adding additional data elements where necessary
to the database. This evaluation will generate a report for the families detailing the information we have and the
dates the information was gathered. We will ask the families for any updated information focusing on
evaluation and treatment outcomes for any of the structural birth defects as well as any cancer diagnoses. The
enhanced dataset will be standardized by the mapping of the Human Phenotype Ontology (HPO) terms to the
data elements. The outcome of this project will be to increase the accessibility and quality of these data to the
broader research community as these phenotype data are integrated with the genomic data generated by the
GMKF program.

## Key facts

- **NIH application ID:** 10813107
- **Project number:** 5R03HD111405-02
- **Recipient organization:** UNIVERSITY OF TEXAS HLTH SCIENCE CENTER
- **Principal Investigator:** JANNINE De Mars CODY
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $155,000
- **Award type:** 5
- **Project period:** 2023-03-21 → 2025-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10813107

## Citation

> US National Institutes of Health, RePORTER application 10813107, Chromosome 18 Cohort Phenotype Enrichment to Strengthen the Gabriella Miller Kids First Program (5R03HD111405-02). Retrieved via AI Analytics 2026-05-28 from https://api.ai-analytics.org/grant/nih/10813107. Licensed CC0.

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