Understanding TBCD gene variations and developing new treatments for related brain disorders
Official title: Uncovering mechanisms and developing novel therapeutic strategies for TBCD-related developmental and epileptic encephalopathy
Funded at Research Inst Nationwide Children's Hosp · NIH-11015788 · Data updated 2026-11-12
This study is looking at how changes in the TBCD gene affect children with severe developmental and epileptic encephalopathy, using special cells and mouse models to better understand the disease and find new ways to help those who are affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Research Inst Nationwide Children's Hosp NIH-funded |
| Lab location | 1 site (Columbus, United States) |
| Project start | February 1, 2024 |
| Project end | January 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $568,866 |
| NIH project number | 5R01NS134923-02 |
| Project ID | NIH-11015788 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with TBCD-related developmental and epileptic encephalopathy.
✕Less likely to help
Patients with other forms of encephalopathy unrelated to TBCD gene variations may not benefit from this research.
What this research studies
This research investigates the effects of variations in the TBCD gene, which can lead to severe developmental and epileptic encephalopathy in children. By utilizing induced pluripotent stem cells and cerebral organoids derived from patients, the team aims to uncover the underlying mechanisms of the disease and assess how different genetic variants affect disease progression. The research also includes the development of mouse models to study the impact of TBCD deficiency on neurodevelopment. Through these approaches, the project seeks to identify potential therapeutic strategies to improve outcomes for affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that significantly improve the quality of life for patients with TBCD-related encephalopathy.
How similar studies have gone: Previous research has shown promise in using stem cell models to study genetic disorders, indicating that this approach could yield valuable insights.
Where this research is happening
-
Research Inst Nationwide Children's Hosp
Columbus, United States Active
Researchers
- Principal investigator: Bradbury, Allison M — Research Inst Nationwide Children's Hosp
- Study coordinator: Bradbury, Allison M
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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.