How the heart's septum and valves form before birth
Mechanisms of DMP Development and Atrioventricular Septation
This research looks at genes that help the heart form its walls and valves before birth to better understand birth defects like atrioventricular septal defects in babies, including those with Down syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Medical University of South Carolina NIH-funded |
| Lab location | 1 site (Charleston, United States) |
| Project ID | NIH-11131400 on NIH RePORTER |
What this research studies
From a patient's perspective, the team studies how early heart parts that separate the chambers and form valves develop and what goes wrong in some babies. They use genetic experiments in mice and molecular lab tests to see how key genes such as SOX9 and a candidate called PENK control those steps. The project also uses a mouse model of Down syndrome to learn why septation defects are common in that condition. Results aim to point to the biological causes of some congenital heart defects and suggest targets for future tests or therapies.
Who could benefit from this research
Good fit: Babies born with atrioventricular septal defects and families affected by Down syndrome are the patient groups most related to this line of research and could be candidates for future clinical follow-up or related studies.
Not a fit: People without congenital heart defects or adult-onset heart disease are unlikely to see direct benefits from this basic science project in the near term.
Why it matters
Potential benefit: If successful, this work could clarify causes of certain newborn heart defects and guide better screening, prevention, or future treatments for affected infants.
How similar studies have performed: Prior animal and genetic studies have supported roles for SOX9 and the second heart field in heart formation, but applying these approaches to PENK and Down syndrome models is relatively new.
Where this research is happening
Charleston, United States
- Medical University of South Carolina — Charleston, United States (Active)
Researchers
- Principal investigator: Wessels, Arno — Medical University of South Carolina
- Study coordinator: Wessels, Arno
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 below.