Understanding how genetic mutations affect diseases through chromatin remodeling enzymes
Official title: Advancing Genomic Interpretation for Chromatin Remodeling Enzymes
Funded at Medical College of Wisconsin · NIH-10842546 · Data updated 2026-11-12
This study is looking at how changes in our genes can lead to diseases, especially by focusing on a specific enzyme called SMARCA4 that helps control how our genes work, with the goal of finding new ways to diagnose and treat rare diseases and cancer for those who need it.
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 start | September 15, 2024 |
| Project end | August 31, 2029 |
| Funding year | 2024 |
| Award (this year) | $390,000 |
| NIH project number | 1R35GM153740-01 |
| Project ID | NIH-10842546 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with rare genetic disorders or cancers linked to mutations in epigenetic enzymes.
✕Less likely to help
Patients with conditions unrelated to genetic mutations or those not affected by epigenetic changes may not benefit from this research.
What this research studies
This research aims to improve our understanding of how genetic mutations lead to diseases by developing advanced tools for interpreting genetic information in a three-dimensional context. The focus is on epigenetic enzymes, particularly the chromatin remodeler SMARCA4, which plays a crucial role in regulating gene expression. By studying how these enzymes function in different tissues and at various times, the research seeks to identify mutations that cause rare diseases and contribute to cancer development. This approach could enhance diagnostic capabilities and treatment strategies for affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and targeted treatments for genetic diseases and cancers.
How similar studies have gone: Previous research has shown promise in using similar approaches to understand genetic mutations and their implications for disease, indicating a potential for success in this area.
Where this research is happening
-
Medical College of Wisconsin
Milwaukee, United States Active
Researchers
- Principal investigator: Zimmermann, Michael T — Medical College of Wisconsin
- Study coordinator: Zimmermann, Michael T
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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.