Understanding TBCK Disease and Brain Cell Damage in Children
Unraveling the Mechanisms of Neurodegeneration in TBCK Encephaloneuronopathy
This work aims to understand how a genetic change in the TBCK gene causes brain cell damage in children with TBCK encephalopathy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11127712 on NIH RePORTER |
What this research studies
TBCK encephalopathy is a rare genetic condition that causes developmental delays and brain cell damage in children. We know that children with this condition have problems with their mitochondria, which are like the powerhouses of cells. This project will explore the normal role of the TBCK protein and how its absence leads to mitochondrial issues and neurodegeneration. By understanding these basic processes, we hope to uncover why brain cells are so vulnerable in this disease. This knowledge is crucial for developing new ways to help children affected by TBCK encephalopathy.
Who could benefit from this research
Good fit: This research is focused on understanding the mechanisms of TBCK encephalopathy, particularly in children affected by this rare genetic condition.
Not a fit: Patients without TBCK encephalopathy or similar rare genetic neurodegenerative disorders may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of TBCK encephalopathy, paving the way for new treatments for this rare childhood neurodegenerative disorder and potentially other similar conditions.
How similar studies have performed: Previous work has characterized the neurological features and identified mitochondrial problems in patient-derived cells, but the core mechanisms remain unclear, making this a novel exploration.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Ortiz-Gonzalez, Xilma R — Children's Hosp of Philadelphia
- Study coordinator: Ortiz-Gonzalez, Xilma R
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.