# Establishing Basic Science-Clinical Collaborations to Understand the Molecular Mechanisms of Heterotaxy

> **NIH NIH R03** · UNIVERSITY OF VIRGINIA · 2024 · $161,500

## Abstract

Congenital heart disease (CHD) is the most common birth defect that affects nearly 1 in 100
liveborn infants. Heterotaxy (HTX) is a severe form affecting 3-4% of CHD patients where left-
right (LR) asymmetry of internal organs is not established correctly. Epidemiological studies
suggest that genetics plays a significant role in CHD. Uncovering the genetic pathogenesis for
CHD is essential to provide a more accurate prognosis for CHD-related interventions, assess the
risk for neurodevelopmental delays, and counsel families about recurrence risks. However, infants
that undergo clinical genetic testing, known mutations and genes that cause CHD are identified
in <30% of cases. This issue is exacerbated in patients from racial or ethnic backgrounds that are
underrepresented in current genetic databases. The overarching GOAL of this proposal is to
address this barrier using a multidisciplinary collaboration between clinicians, bioinformaticians,
and basic scientists. Our research has the potential to significantly improve care and outcomes
for HTX patients.

## Key facts

- **NIH application ID:** 10887951
- **Project number:** 1R03HD112688-01A1
- **Recipient organization:** UNIVERSITY OF VIRGINIA
- **Principal Investigator:** Saurabh S Kulkarni
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $161,500
- **Award type:** 1
- **Project period:** 2024-08-01 → 2026-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10887951

## Citation

> US National Institutes of Health, RePORTER application 10887951, Establishing Basic Science-Clinical Collaborations to Understand the Molecular Mechanisms of Heterotaxy (1R03HD112688-01A1). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10887951. Licensed CC0.

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