SHROOM3's role in early heart development
Developmental and genetic function of SHROOM3
Researchers are looking at how changes in the SHROOM3 gene may cause heart birth defects in infants and young children.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Indiana University Indianapolis NIH-funded |
| Lab location | 1 site (Indianapolis, United States) |
| Project ID | NIH-11294365 on NIH RePORTER |
What this research studies
This project combines human genetic data with laboratory studies to understand how SHROOM3 affects heart formation. Scientists will analyze patient DNA to find SHROOM3 variants and use animal models and cell experiments to see how those changes alter heart development. They will map proteins that interact with SHROOM3 and study cell-structure pathways important for forming the heart. The team aims to link specific genetic changes to the types and severity of congenital heart defects.
Who could benefit from this research
Good fit: Families of infants or young children with unexplained congenital heart defects, especially those found to have changes in the SHROOM3 gene, would be most relevant to this work.
Not a fit: People whose heart problems are caused by non-genetic factors or by genes unrelated to SHROOM3 are unlikely to see direct benefits from this research.
Why it matters
Potential benefit: If successful, the work could improve genetic diagnosis, help predict risk or outcomes for children with congenital heart defects, and point to new targets for future treatments.
How similar studies have performed: Previous genetic and animal-model studies have linked SHROOM3 and related pathways to heart development, but applying those findings to predict human congenital heart disease is still limited.
Where this research is happening
Indianapolis, United States
- Indiana University Indianapolis — Indianapolis, United States (Active)
Researchers
- Principal investigator: Ware, Stephanie M — Indiana University Indianapolis
- Study coordinator: Ware, Stephanie M
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.