Understanding the genetic causes of heterotaxy in congenital heart disease
Official title: Establishing Basic Science-Clinical Collaborations to Understand the Molecular Mechanisms of Heterotaxy
Funded at University of Virginia · NIH-10887951 · Data updated 2026-11-12
This study is looking into the genetic causes of heterotaxy, a serious heart condition that affects how organs are arranged in the body, to help doctors find better ways to care for babies with this condition, especially in communities that are often overlooked.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Virginia NIH-funded |
| Lab location | 1 site (Charlottesville, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $161,500 |
| NIH project number | 1R03HD112688-01A1 |
| Project ID | NIH-10887951 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include infants diagnosed with heterotaxy or congenital heart disease, particularly those from diverse racial and ethnic backgrounds.
✕Less likely to help
Patients without congenital heart disease or those whose conditions are unrelated to genetic factors may not benefit from this research.
What this research studies
This research investigates the genetic mechanisms behind heterotaxy, a severe form of congenital heart disease that affects the arrangement of internal organs. By collaborating with clinicians, bioinformaticians, and basic scientists, the team aims to uncover the genetic factors that contribute to this condition, particularly in underrepresented populations. The study will utilize advanced genetic testing and analysis techniques to identify mutations and genes associated with heterotaxy, which could lead to better prognostic tools and interventions for affected infants. The goal is to enhance understanding and improve outcomes for patients with this complex condition.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for infants with heterotaxy, ultimately enhancing their health outcomes.
How similar studies have gone: Previous research has shown promise in identifying genetic factors in congenital heart disease, suggesting that this approach could yield valuable insights.
Where this research is happening
-
University of Virginia
Charlottesville, United States Active
Researchers
- Principal investigator: Kulkarni, Saurabh S — University of Virginia
- Study coordinator: Kulkarni, Saurabh S
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.