Understanding brain malformations and epilepsy linked to STRADA gene mutations
Elucidating pathogenic mechanisms in STRADA-related brain malformation and epilepsy
This study is looking at how a specific gene called STRADA might cause epilepsy in children by creating tiny brain models from their stem cells, with the hope of finding new ways to help kids who struggle with seizures and don’t get better with current treatments.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-10867413 on NIH RePORTER |
What this research studies
This research investigates the genetic causes of epilepsy in children, particularly focusing on the STRADA gene and its role in brain malformations. By studying stem cells derived from affected individuals, researchers aim to create 3-D brain organoids that mimic the developing cortex. These organoids will help identify the mechanisms behind epilepsy and assess potential treatments targeting the mTOR pathway, which is often hyperactive in these conditions. The goal is to find new ways to prevent or reduce seizures in children who do not respond to existing medications.
Who could benefit from this research
Good fit: Ideal candidates for this research include children under 11 years old who have been diagnosed with epilepsy related to STRADA gene mutations.
Not a fit: Patients with epilepsy not linked to genetic causes or those over the age of 11 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that effectively manage or prevent epilepsy in children with STRADA-related conditions.
How similar studies have performed: Previous research has shown promise in using 3-D organoid models to study brain disorders, indicating that this approach may yield valuable insights.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Dang, Louis Tuong Chinh — University of Michigan at Ann Arbor
- Study coordinator: Dang, Louis Tuong Chinh
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.