# Bridging the Gap between Genomics and Clinical Outcomes in CHD

> **NIH NIH U01** · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · 2022 · $419,375

## Abstract

PROJECT SUMMARY/ABSTRACT
The NHLBI has invested extensively in the Pediatric Cardiac Genomics Consortium (PCGC), recognizing that
translating genomic discoveries into optimized management and therapeutic strategies for congenital heart
disease (CHD) can only be achieved in the context of multi-center, collaborative research. Currently, the PCGC
is lacking two fundamental capabilities that hinder its ability to define the genomic basis for CHD outcomes: (1)
a robust mechanism for extracting pertinent, machine-readable clinical data from Electronic Health Records
(EHRs) across multiple institutions; and (2) a robust Artificial Intelligence (AI) platform that is capable of teasing
apart the complex interplay between maternal factors, phenotypes, genotypes, gene functions and clinical
outcomes. Here, we propose innovative solutions to these challenges, by assembling teams of content experts
to leverage existing infrastructure to extract relevant outcomes directly from the EHR of participating PCGC
Centers and by designing best-practice AI tools for outcomes research. Our principal goal is provide the vision,
infrastructure and expertise to collaboratively empower CHD outcomes research, foster knowledge exchange,
and train the next generation of genomic scientists. We propose to leverage existing data infrastructure to obtain
Electronic Health Records (EHR) and other clinical variables at scale by partnering with other research networks
to create a PCGC Data Resource. Using this resource, we will create and deploy a platform of Artificial
Intelligence (AI)-based predictors for CHD outcomes research, with the goal of translating genomic discoveries
into improved management and therapeutic strategies for CHD.

## Key facts

- **NIH application ID:** 10477466
- **Project number:** 5U01HL128711-08
- **Recipient organization:** UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH
- **Principal Investigator:** MARTIN TRISTANI-FIROUZI
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $419,375
- **Award type:** 5
- **Project period:** 2015-08-15 → 2025-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10477466

## Citation

> US National Institutes of Health, RePORTER application 10477466, Bridging the Gap between Genomics and Clinical Outcomes in CHD (5U01HL128711-08). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10477466. Licensed CC0.

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