Understanding the causes of TAR syndrome and its developmental defects
Delineating molecular mechanism of developmental defects of TAR syndrome
['FUNDING_R21'] · PENNSYLVANIA STATE UNIVERSITY, THE · NIH-10818067
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
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | PENNSYLVANIA STATE UNIVERSITY, THE (nih funded) |
| Locations | 1 site (UNIVERSITY PARK, UNITED STATES) |
| Trial ID | NIH-10818067 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with TAR syndrome or those with related congenital skeletal and craniofacial abnormalities.
Not a fit: Patients with congenital defects not related to RBM8A mutations may not benefit from this research.
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 performed: 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
UNIVERSITY PARK, UNITED STATES
- PENNSYLVANIA STATE UNIVERSITY, THE — UNIVERSITY PARK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MAO, YINGWEI — PENNSYLVANIA STATE UNIVERSITY, THE
- Study coordinator: MAO, YINGWEI
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.