Understanding how a specific gene affects heart development and congenital heart disease.
Official title: Investigation of TNRC18 in Left-Right Patterning and Congenital Heart Disease
Funded at Yale University · NIH-10998566 · Data updated 2026-11-12
This study is looking at how a gene called TNRC18 might be linked to a serious heart condition called heterotaxy, which affects how the heart develops, and it aims to help us understand the genetic reasons behind heart defects to improve care for those with congenital heart disease.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project start | September 1, 2024 |
| Project end | August 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $33,958 |
| NIH project number | 1F30HL176144-01 |
| Project ID | NIH-10998566 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include infants and children diagnosed with congenital heart disease, particularly those with heterotaxy.
✕Less likely to help
Patients with congenital heart disease not related to left-right patterning defects may not benefit from this research.
What this research studies
This research investigates the role of the TNRC18 gene in the development of congenital heart disease, particularly focusing on a severe form known as heterotaxy. By using advanced genetic techniques, the study aims to uncover how abnormalities in TNRC18 lead to defects in the left-right patterning of the heart during embryonic development. Researchers will conduct experiments to visualize gene expression and assess the impact of genetic variants on heart formation. This work could provide insights into the genetic causes of heart defects and improve understanding of congenital heart disease.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for congenital heart disease, improving outcomes for affected infants.
How similar studies have gone: While the specific focus on TNRC18 is relatively novel, previous studies have successfully identified genetic factors contributing to congenital heart disease, indicating potential for impactful findings.
Where this research is happening
-
Yale University
New Haven, United States Active
Researchers
- Principal investigator: Rushing, Amy — Yale University
- Study coordinator: Rushing, Amy
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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.