Animal model proof-of-concept for TAR syndrome treatment
Official title: Concept-proof of treatment in a rodent model of thrombocytopenia-absent-radius (TAR) syndrome
Funded at Pennsylvania State University, the · NIH-11352187 · Data updated 2026-11-12
A researcher is testing new ways to treat TAR syndrome by using a mouse model that mimics the human bone and blood problems.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Pennsylvania State University, the NIH-funded |
| Lab location | 1 site (University Park, United States) |
| Project start | August 14, 2026 |
| Project end | July 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $427,134 |
| NIH project number | 1R21HD122002-01 |
| Project ID | NIH-11352187 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with TAR syndrome or those at risk due to RBM8A haploinsufficiency who could benefit from future therapies.
✕Less likely to help
Patients without TAR syndrome or RBM8A-related conditions may not be directly helped by this study.
What this research studies
This project creates and studies mice with RBM8A-related defects to reproduce TAR syndrome features like missing radius bones and low platelet counts. It also uses a cellular system with human RBM8A reporters to screen compounds that can raise RBM8A levels. The team plans to test promising compounds in the animal model to see if they improve bone development and blood cell formation. This work aims to lay the groundwork for future interventions that could benefit people with TAR syndrome.
Why it matters
Potential benefit: If successful, the research could lead to treatments that improve bone development and platelet counts in TAR syndrome.
How similar studies have gone: Preclinical models and cellular screens have shown that targeting RBM8A pathways can influence relevant phenotypes, supporting translational potential.
Where this research is happening
-
Pennsylvania State University, the
University Park, United States Active
Researchers
- Principal investigator: Mao, Yingwei — Pennsylvania State University, the
- Study coordinator: Mao, Yingwei
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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.