Germline factors that raise risk for myeloproliferative disorders
Official title: Causal mechanisms driving germline predisposition to myeloproliferative disorders
Funded at Albert Einstein College of Medicine · NIH-11346605 · Data updated 2026-11-12
A large genetics study looks at how inherited DNA variants may raise the chance of developing myeloproliferative neoplasms by altering blood stem cell behavior.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albert Einstein College of Medicine NIH-funded |
| Lab location | 1 site (Bronx, United States) |
| Project start | June 18, 2026 |
| Project end | May 31, 2031 |
| Funding year | 2026 |
| Award (this year) | $561,407 |
| NIH project number | 1R01CA312208-01 |
| Project ID | NIH-11346605 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with a germline predisposition to myeloproliferative neoplasms or related hematologic conditions.
✕Less likely to help
People without these inherited risk variants or without MPN-related biology may not benefit directly.
What this research studies
This project uses genome-wide association data to uncover how inherited genetic variants influence the initiation and progression of myeloproliferative disorders. Researchers will explore how non-coding DNA elements at risk loci affect hematopoietic stem cell self-renewal and clonal expansion, especially in cells carrying driver mutations like JAK2V617F. The work includes in vivo experiments to understand how specific variants at the GFI1B gene influence disease predisposition and to map upstream transcriptional changes caused by common variants. By linking germline variation to disease mechanisms, the study aims to reveal targets that could inform prevention or early intervention for individuals at higher genetic risk.
Why it matters
Potential benefit: If successful, the findings could clarify why some people with certain inherited variants develop MPNs and point to new strategies to prevent or slow disease progression.
How similar studies have gone: Previous GWAS have linked non-coding risk loci to MPN risk, with ongoing work translating these findings toward mechanisms and potential targets.
Where this research is happening
-
Albert Einstein College of Medicine
Bronx, United States Active
Researchers
- Principal investigator: Nandakumar, Satish Kumar — Albert Einstein College of Medicine
- Study coordinator: Nandakumar, Satish Kumar
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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.