Understanding the causes of TAR syndrome and its developmental defects
Official title: Delineating molecular mechanism of developmental defects of TAR syndrome
Funded at Pennsylvania State University, the · NIH-10818067 · Data updated 2026-11-12
This study is looking into how changes in a specific gene called RBM8A cause TAR syndrome, which affects bone and facial development, and it aims to find new ways to treat this condition using a mouse model.
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 | September 15, 2023 |
| Project end | September 14, 2025 |
| Funding year | 2023 |
| Award (this year) | $411,925 |
| NIH project number | 1R21DE032806-01A1 |
| Project ID | NIH-10818067 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with TAR syndrome or those with related congenital skeletal and craniofacial abnormalities.
✕Less likely to help
Patients with congenital defects not related to RBM8A mutations may not benefit from this research.
What this research studies
This research investigates the genetic basis of TAR syndrome, a rare condition characterized by skeletal and craniofacial abnormalities. By studying the RBM8A gene, which is linked to this syndrome, the researchers aim to uncover how its deficiency leads to specific developmental issues. They will utilize a mouse model to explore the role of RBM8A in forelimb development and test innovative gene therapy approaches to potentially reverse these defects. The findings could pave the way for new treatments for affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to effective treatments and preventive strategies for TAR syndrome and similar congenital defects.
How similar studies have gone: Previous research has shown promise in understanding genetic causes of congenital defects, but this specific approach to TAR syndrome is relatively novel.
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.