GATA2 switches that control blood stem cells
Hematopoietic Regulation via GATA Switches
This work looks at how small gene switches around GATA2 change blood stem cells and relate to GATA2 deficiency, MDS, and acute myeloid leukemia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Wisconsin-Madison NIH-funded |
| Lab location | 1 site (Madison, United States) |
| Project ID | NIH-11257330 on NIH RePORTER |
What this research studies
Researchers use mouse models that mimic GATA2 silencing and study human genetic variants at two key enhancer sites (+9.5 and -77) that control GATA2. They combine clinical genetic data, multi-omics measurements, and laboratory "rescue" experiments to measure GATA2 activity and how blood progenitor cells respond to signals. The team searches for secondary changes that allow GATA2 variants to cause disease and tests whether restoring GATA2 normalizes cell behavior. Results aim to explain why some people with GATA2 variants develop immunodeficiency, MDS, or AML while others do not.
Who could benefit from this research
Good fit: People with known or suspected GATA2 mutations, family history of GATA2 deficiency, or patients with MDS/AML undergoing genetic evaluation are the most relevant candidates.
Not a fit: Patients whose blood disorders are unrelated to GATA2 genetics or who cannot provide genetic or blood samples are unlikely to gain direct benefit.
Why it matters
Potential benefit: Could lead to better genetic tests and new ways to prevent or treat GATA2-related bone marrow failure, MDS, or AML.
How similar studies have performed: Previous genetic and animal work has already linked GATA2 coding and enhancer changes to disease and shown rescue effects in mouse models, but patient-focused translation is still early.
Where this research is happening
Madison, United States
- University of Wisconsin-Madison — Madison, United States (Active)
Researchers
- Principal investigator: Bresnick, Emery H. — University of Wisconsin-Madison
- Study coordinator: Bresnick, Emery H.
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.