Understanding genetic causes of scoliosis
Official title: Investigations of the molecular genetics and pathogenesis of scoliosis.
Funded at University of Texas at Austin · NIH-11257280 · Data updated 2026-11-12
This work looks at whether genes called ADGRG6 and SOX9 and their cell signals help keep the spine straight and could lead to ways to prevent or reduce scoliosis, especially in adolescents.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas at Austin NIH-funded |
| Lab location | 1 site (Austin, United States) |
| Project start | July 10, 2017 |
| Project end | December 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $416,687 |
| NIH project number | 5R01AR072009-09 |
| Project ID | NIH-11257280 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for any related patient-facing efforts would be adolescents with newly diagnosed idiopathic scoliosis or individuals with genetic variants linked to ADGRG6 or SOX9.
✕Less likely to help
People whose spinal curves are due to obvious structural bone malformations, advanced degenerative spine disease, or purely mechanical causes may not benefit from gene- or signaling-based approaches.
What this research studies
Researchers combine animal models and human genetic data to find how specific genes control spine development and alignment. They use mice and zebrafish with genetic changes to see how loss of ADGRG6 or changes in SOX9 affect spinal tissues and cause curvature. Lab studies also test whether boosting cAMP signaling can protect spinal connective tissues and reduce scoliosis in these models. Human genetic analyses search for variants in people with adolescent idiopathic scoliosis to connect the animal findings to patients.
Why it matters
Potential benefit: If successful, the work could point to drug targets or genetic markers that prevent or lessen scoliosis and guide new treatments for people at risk.
How similar studies have gone: Preclinical mouse studies from this group support the role of ADGRG6 and cAMP signaling in spine alignment, but human-directed therapies based on these findings have not yet been proven.
Where this research is happening
-
University of Texas at Austin
Austin, United States Active
Researchers
- Principal investigator: Gray, Ryan Scott — University of Texas at Austin
- Study coordinator: Gray, Ryan Scott
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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.