How a JAK2 mutation and missing genes on chromosome 20q make certain blood cancers worse
Official title: Molecular Basis for Progression of Myeloproliferative Neoplasms Induced by JAK2V617F
Funded at University of Virginia · NIH-11258551 · Data updated 2026-11-12
Researchers will look at how the common JAK2V617F mutation together with loss of genes on chromosome 20q drive progression from polycythemia vera or essential thrombocythemia to myelofibrosis to find new treatment targets for people with these blood cancers.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Virginia NIH-funded |
| Lab location | 1 site (Charlottesville, United States) |
| Project start | January 15, 2025 |
| Project end | November 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $595,477 |
| NIH project number | 5R01HL173611-02 |
| Project ID | NIH-11258551 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with polycythemia vera, essential thrombocythemia, or myelofibrosis—especially those known to have the JAK2V617F mutation and/or chromosome 20q deletions—would be most relevant.
✕Less likely to help
Patients whose disease is driven by other mutations or who do not have JAK2V617F or 20q changes may not directly benefit from the specific findings.
What this research studies
This work will use patient-derived samples and laboratory models to see how the JAK2V617F mutation and deletion of genes on chromosome 20q, especially PTPN1, push some patients toward myelofibrosis. Scientists will examine molecular signals, genetic changes, and how bone marrow fibrosis develops and progresses. The team will test whether fixing or blocking the pathways they find can reverse fibrosis or overcome resistance to current JAK2 inhibitor drugs in lab models. If promising, these findings could guide new drug development or future clinical trials for people with MPNs.
Why it matters
Potential benefit: Could point to new drug targets that stop or reverse bone marrow fibrosis and help patients who no longer respond to current JAK2 inhibitors.
How similar studies have gone: Existing JAK2 inhibitor drugs can relieve symptoms and shrink spleens but do not reverse marrow fibrosis, and identifying PTPN1 as a tumor suppressor in del20q is a newer direction building on those prior results.
Where this research is happening
-
University of Virginia
Charlottesville, United States Active
Researchers
- Principal investigator: Mohi, Golam — University of Virginia
- Study coordinator: Mohi, Golam
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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.