Understanding a rare blood disorder that affects platelet production and bone development
Official title: Investigating thrombocytopenia absent radius syndrome during primitive and definitive hematopoiesis using an induced pluripotent stem cell model
Funded at University of Pennsylvania · NIH-10914689 · Data updated 2026-11-12
This study is looking at how a rare condition called TAR syndrome, which causes low platelet counts and missing bones in the arms, affects the cells that make platelets, using special lab-grown cells from patients to better understand the problem.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | September 1, 2022 |
| Project end | August 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $36,736 |
| NIH project number | 5F31HL165833-03 |
| Project ID | NIH-10914689 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with thrombocytopenia absent radius syndrome or those with similar blood disorders.
✕Less likely to help
Patients without TAR syndrome or related blood disorders may not benefit from this research.
What this research studies
This research investigates thrombocytopenia absent radius (TAR) syndrome, a rare congenital disorder characterized by the absence of the radii bones and low platelet counts. Using patient-derived induced pluripotent stem cells (iPSCs), the study aims to explore how mutations in the RBMBA gene affect the development and maturation of megakaryocytes, the cells responsible for producing platelets. By examining these cells in a controlled laboratory setting, researchers hope to uncover the mechanisms behind the disease and how it impacts blood cell development. This approach allows for a detailed analysis of specific cell populations without the complexities of the whole organism.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for patients with TAR syndrome and related blood disorders.
How similar studies have gone: While the specific approach using iPSCs for TAR syndrome is novel, previous studies have shown success in using stem cell models to investigate other blood disorders.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Nations, Catriana — University of Pennsylvania
- Study coordinator: Nations, Catriana
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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.