Understanding the cause of scoliosis in patients with neurofibromatosis type 1
Characterizing the cell-of-origin for NF1 dystrophic scoliosis
This study is looking into why some people with neurofibromatosis type 1 develop severe spinal curves, and it aims to find out how changes in certain cells during development affect the spine, which could help improve treatments for those dealing with this challenging condition.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-11052559 on NIH RePORTER |
What this research studies
This research investigates the underlying causes of dystrophic scoliosis in patients with neurofibromatosis type 1 (NF1), a condition that leads to severe spinal deformities. The team will explore how the loss of the NF1 gene in specific cells during development affects the spine's structure and function. By studying embryos and the intervertebral discs, researchers aim to identify the critical cells involved in this condition. This could lead to better understanding and potential new treatments for patients suffering from this debilitating disorder.
Who could benefit from this research
Good fit: Ideal candidates for this research are adults diagnosed with neurofibromatosis type 1 who are experiencing dystrophic scoliosis.
Not a fit: Patients without neurofibromatosis type 1 or those who do not have scoliosis may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatment options and management strategies for patients with NF1 dystrophic scoliosis.
How similar studies have performed: Previous research has shown promising results in understanding genetic contributions to scoliosis, suggesting that this approach may yield valuable insights.
Where this research is happening
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Elefteriou, Florent — Baylor College of Medicine
- Study coordinator: Elefteriou, Florent
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.