Investigating genes involved in congenital heart defects related to 1p36 deletion syndrome
Official title: The Role of RERE and SPEN in the development of 1p36 Deletion-Related Congenital Heart Defects
Funded at Baylor College of Medicine · NIH-10850427 · Data updated 2026-11-12
This study is looking at how certain genes might cause heart problems in babies with 1p36 deletion syndrome, using mice to learn more about how these genes affect heart development, which could help find new ways to prevent or treat these issues.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project start | July 22, 2024 |
| Project end | June 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $160,000 |
| NIH project number | 1R03HD114568-01 |
| Project ID | NIH-10850427 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are infants diagnosed with 1p36 deletion syndrome who are experiencing congenital heart defects.
✕Less likely to help
Patients without 1p36 deletion syndrome or those with congenital heart defects not related to this genetic condition may not benefit from this research.
What this research studies
This research focuses on understanding how specific genes, RERE and SPEN, contribute to congenital heart defects (CHDs) in infants with 1p36 deletion syndrome. By studying mouse models, the researchers aim to uncover the molecular mechanisms that lead to heart malformations, particularly ventricular septal defects. The approach involves examining how deficiencies in these genes affect heart development and cell proliferation during critical stages of embryonic growth. This could provide insights into potential therapeutic targets for preventing or treating these defects.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential interventions for congenital heart defects in affected infants.
How similar studies have gone: Previous research has shown promising results in understanding genetic contributions to congenital heart defects, making this approach both relevant and potentially impactful.
Where this research is happening
-
Baylor College of Medicine
Houston, United States Active
Researchers
- Principal investigator: Scott, Daryl Armstrong — Baylor College of Medicine
- Study coordinator: Scott, Daryl Armstrong
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.