# Identifying and applying genetic variation relevant to clinical outcomes for individuals with congenital heart disease

> **NIH NIH U01** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2020 · $470,359

## Abstract

Project Summary
Improvements in the surgical and medical care of children with congenital heart disease (CHD)
have increased survival. Among survivors, however, there is a high prevalence and significant
long term impact of cognitive and behavioral problems and medical complications including
heart failure and problems with growth. We hypothesize that in some cases of CHD, there are
genes that have pleiotropic effects on development and function of other systems including the
brain. The goal of this study is to determine the genetic contributions to clinical outcomes in
individuals with CHD and to begin to use this information in clinical care and to design better
clinical trials of treatments for CHD. Through these studies, we will determine major genetic
contributors to CHD outcomes, expand the scientific evidence through additional case finding
outside of PCGC to increase the number of confirmed CHD genes and clinically characterize
these genetic conditions to improve the ability to anticipate and prevent medical problems in
those CHD patients. By identifying individuals with pathogenic variants from previous clinical
trials, we will determine whether integration of genomic data would improve power and precision
for CHD treatment trials by eliminating groups of patients unlikely to respond. All of these efforts
are focused on translating the findings from PCGC into clinical care.

## Key facts

- **NIH application ID:** 10028016
- **Project number:** 1U01HL153009-01
- **Recipient organization:** COLUMBIA UNIVERSITY HEALTH SCIENCES
- **Principal Investigator:** Wendy K Chung
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $470,359
- **Award type:** 1
- **Project period:** 2020-08-01 → 2025-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10028016

## Citation

> US National Institutes of Health, RePORTER application 10028016, Identifying and applying genetic variation relevant to clinical outcomes for individuals with congenital heart disease (1U01HL153009-01). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10028016. Licensed CC0.

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