How the SHROOM3 gene may cause congenital heart defects
Official title: The role of SHROOM3 in congenital heart disease
Funded at Indiana University Indianapolis · NIH-11299565 · Data updated 2026-11-12
This work looks at how changes in the SHROOM3 gene can lead to congenital heart problems in babies.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Indiana University Indianapolis NIH-funded |
| Lab location | 1 site (Indianapolis, United States) |
| Project start | February 15, 2017 |
| Project end | January 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $388,323 |
| NIH project number | 5P01HL134599-09 |
| Project ID | NIH-11299565 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with congenital heart defects, especially those or their family members with a known SHROOM3 genetic change, are the most relevant candidates.
✕Less likely to help
Patients whose heart conditions are caused by non-genetic factors or different genes, or those seeking immediate clinical treatments, are unlikely to benefit directly from this preclinical research.
What this research studies
I would learn how SHROOM3 affects heart development by following what happens when the gene is missing or altered. The team uses genetic mouse models that lack SHROOM3 to watch heart formation and to identify specific defects like septal and outflow tract problems. They study how SHROOM3 interacts with other proteins (for example DVL2, ROCK, and actin) to map the molecular steps that go wrong. The researchers also relate those findings to genetic data from people who carry SHROOM3 variants.
Why it matters
Potential benefit: If successful, this work could improve genetic diagnosis and point to new targets for treating or preventing some congenital heart defects.
How similar studies have gone: Earlier genetic studies and mouse models have linked SHROOM3 to heart development problems, but the exact molecular role is still being defined.
Where this research is happening
-
Indiana University Indianapolis
Indianapolis, United States Active
Researchers
- Principal investigator: Durbin, Matthew D. — Indiana University Indianapolis
- Study coordinator: Durbin, Matthew D.
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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.