Investigating genetic therapy for a specific variant causing neurological disorders
Disease mechanism and genetic therapy for a pathogenic STXBP1 variant
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 ID | NIH-11068519 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with STXBP1-encephalopathy, particularly those with pathogenic variants in the STXBP1 gene.
Not a fit: Patients without STXBP1 variants or those with other unrelated neurological disorders may not benefit from this research.
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 performed: 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
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Horist, Brooke — Baylor College of Medicine
- Study coordinator: Horist, Brooke
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.