STAG2 mutations that cause harmful R loop buildup in leukemia
Biology and targeting of mutant STAG2-mediated R loop accumulation
['FUNDING_P01'] · DANA-FARBER CANCER INST · NIH-11196543
Researchers are working to stop harmful R loop buildup caused by STAG2 mutations to help people with AML or MDS.
Quick facts
| Phase | ['FUNDING_P01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | DANA-FARBER CANCER INST (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11196543 on ClinicalTrials.gov |
What this research studies
This project uses new lab models that mimic human blood cancers with STAG2 (cohesin) mutations to see how those mutations cause buildup of RNA–DNA hybrids called R loops. Scientists will examine how R loops lead to DNA damage and changes in gene activity using cells, engineered models, and patient-derived samples. They will also try approaches to reduce R loops or restore the proteins that control them to see if that lowers DNA damage and slows disease-relevant changes. The overall aim is to find steps in this process that could be targeted by future treatments for STAG2-mutant AML or MDS.
Who could benefit from this research
Good fit: People with myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML) whose cancer carries STAG2 or other cohesin mutations and who can provide blood or bone marrow samples would be ideal candidates.
Not a fit: Patients without STAG2/cohesin mutations or those with unrelated cancer types may not benefit directly from findings focused on STAG2-driven R loops.
Why it matters
Potential benefit: If successful, this work could identify new targets for drugs or therapies that better treat or prevent STAG2-mutant AML/MDS.
How similar studies have performed: Previous research has linked cohesin mutations and R loops to DNA damage, but directly targeting R loops as a therapy is a novel and mostly untested approach in patients.
Where this research is happening
BOSTON, UNITED STATES
- DANA-FARBER CANCER INST — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: TOTHOVA, ZUZANA — DANA-FARBER CANCER INST
- Study coordinator: TOTHOVA, ZUZANA
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.