Understanding the genetic role of SHROOM3 in heart development
Developmental and genetic function of SHROOM3
This study is looking into how changes in a specific gene called SHROOM3 might cause heart problems from birth, and it's designed to help families understand the genetic risks and outcomes related to congenital heart disease.
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-11031372 on NIH RePORTER |
What this research studies
This research investigates the genetic factors contributing to congenital heart disease (CHD), focusing on the SHROOM3 gene and its interactions with other proteins involved in heart development. By utilizing animal models and advanced genomic techniques, the study aims to uncover how variations in SHROOM3 can lead to heart malformations. The research will also explore the genetic architecture of CHD, including the roles of non-penetrance and variable expressivity, to better predict risks and outcomes for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include children under 11 years old who have been diagnosed with congenital heart defects or have a family history of such conditions.
Not a fit: Patients with congenital heart disease caused by known syndromic factors or those outside the age range of 0-11 years may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and prediction of congenital heart disease, potentially guiding better prevention and treatment strategies.
How similar studies have performed: Previous research has shown promise in identifying genetic factors associated with congenital heart disease, but the specific focus on SHROOM3 and its interactions represents a novel approach.
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.