Blood stem cell mutations and inherited genes in sickle cell disease
Clonal hematopoiesis and inherited genetic variation in sickle cell disease
This project looks at whether early blood stem cell mutations and inherited gene differences help explain organ damage and blood cancer risk in people with sickle cell disease.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University Medical Center NIH-funded |
| Lab location | 1 site (Nashville, United States) |
| Project ID | NIH-11314540 on NIH RePORTER |
What this research studies
If you join, researchers will examine blood samples and genetic data to find small, early mutations in blood stem cells and inherited gene variants linked to organ problems. They will compare these findings with patterns seen in people without sickle cell disease and with clinical histories of heart, lung, and kidney damage. The team will also look at whether these mutations were present before people received stem cell transplant or gene therapy that later led to blood cancers. The goal is to link genetic changes to who is at higher risk for organ decline or later leukemia.
Who could benefit from this research
Good fit: People living with sickle cell disease, especially young adults or anyone considering stem cell transplant or autologous gene therapy, are the most relevant candidates.
Not a fit: People without sickle cell disease or those unwilling or unable to provide blood samples are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could help identify people with sickle cell disease who face higher risks so clinicians can choose safer treatments and monitor them more closely.
How similar studies have performed: Previous studies in other populations have linked clonal hematopoiesis to leukemia and vascular disease, and preliminary data suggest similar early changes occur in people with sickle cell disease.
Where this research is happening
Nashville, United States
- Vanderbilt University Medical Center — Nashville, United States (Active)
Researchers
- Principal investigator: Bick, Alexander — Vanderbilt University Medical Center
- Study coordinator: Bick, Alexander
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.