Understanding how SMARCA4 gene changes affect health
Advancing Genomic Interpretation for Chromatin Remodeling Enzymes
This project will build tools to predict which changes in the SMARCA4 gene cause disease, aiming to help people with rare genetic conditions and certain cancers.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Medical College of Wisconsin NIH-funded |
| Lab location | 1 site (Milwaukee, United States) |
| Project ID | NIH-11192828 on NIH RePORTER |
What this research studies
If a change in my SMARCA4 gene might explain my symptoms, this project aims to clarify what that change does. Researchers will use lab experiments, three‑dimensional protein models, and computer analyses to see how specific mutations alter SMARCA4 function in different tissues. They will combine results from cells and patient-derived samples with computational mapping to link mutations to likely biological effects. The work is meant to make genetic test results more informative and to guide future diagnostic and treatment options.
Who could benefit from this research
Good fit: Ideal candidates are people with unexplained developmental disorders, rare genetic syndromes, or tumors that carry SMARCA4 mutations who might donate samples or be interested in follow-up research.
Not a fit: People whose conditions are unrelated to SMARCA4 or other chromatin regulators, or those seeking immediate clinical treatment rather than research participation, are unlikely to benefit directly.
Why it matters
Potential benefit: If successful, this work could make genetic test results clearer and point to better diagnoses and treatment options for people with SMARCA4-related conditions.
How similar studies have performed: Some labs have used functional tests and computational predictors for other genes, but applying 3‑D, context-aware interpretation specifically to SMARCA4 is a newer approach with limited prior clinical proof.
Where this research is happening
Milwaukee, United States
- Medical College of Wisconsin — Milwaukee, United States (Active)
Researchers
- Principal investigator: Zimmermann, Michael T — Medical College of Wisconsin
- Study coordinator: Zimmermann, Michael T
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.