Investigating genetic therapy for a specific variant causing neurological disorders
Official title: Disease mechanism and genetic therapy for a pathogenic STXBP1 variant
Funded at Baylor College of Medicine · NIH-11068519 · Data updated 2026-11-12
This study is looking into how a specific gene change affects people with STXBP1-encephalopathy, a condition that causes serious challenges like learning difficulties and seizures, by creating a mouse model to help find new ways to treat the condition at its source.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project start | December 16, 2024 |
| Project end | December 15, 2026 |
| Funding year | 2025 |
| Award (this year) | $48,974 |
| NIH project number | 1F31NS141322-01 |
| Project ID | NIH-11068519 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with STXBP1-encephalopathy, particularly those with pathogenic variants in the STXBP1 gene.
✕Less likely to help
Patients without STXBP1 variants or those with other unrelated neurological disorders may not benefit from this research.
What this research studies
This research focuses on understanding the disease mechanism behind STXBP1-encephalopathy, a severe condition characterized by intellectual disability, epilepsy, and movement disorders. The researchers are developing a mouse model to study the effects of a common missense variant in the STXBP1 gene, which is crucial for neurotransmitter release. By creating this model, they aim to uncover the underlying mechanisms of the disease and explore potential genetic therapies that could address the root cause rather than just alleviating symptoms.
Why it matters
Potential benefit: If successful, this research could lead to targeted genetic therapies that improve outcomes for patients with STXBP1-encephalopathy.
How similar studies have gone: While the approach of developing genetic therapies for specific variants is gaining traction, this particular focus on STXBP1 missense variants is relatively novel and has not been extensively tested.
Where this research is happening
-
Baylor College of Medicine
Houston, United States Active
Researchers
- Principal investigator: Horist, Brooke — Baylor College of Medicine
- Study coordinator: Horist, Brooke
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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.