Investigating how TSC2 mutations affect nerve cell growth and guidance
Mechanisms of mTOR-independent axon growth and guidance defects in TSC2 mutant human neurons
This study is looking at how changes in a specific gene affect the growth and connections of nerve cells in people with Tuberous Sclerosis Complex, using special cells from patients to see how they behave compared to corrected cells, with the goal of understanding why some patients experience issues like learning difficulties and seizures.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Wisconsin-Madison NIH-funded |
| Lab location | 1 site (Madison, United States) |
| Project ID | NIH-10828368 on NIH RePORTER |
What this research studies
This research focuses on understanding how mutations in the TSC2 gene lead to problems in the growth and guidance of nerve cells in patients with Tuberous Sclerosis Complex (TSC). By using human induced pluripotent stem cells derived from TSC patients, researchers will compare the behavior of these mutant neurons to genetically corrected neurons. The study will involve various assays to analyze the signaling pathways involved in neuronal development, particularly looking at the roles of mTORC1 and mTORC2 pathways. This approach aims to uncover the molecular mechanisms behind the mis-wiring of neurons that contribute to symptoms like cognitive deficits and epilepsy.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Tuberous Sclerosis Complex, particularly those experiencing neurological symptoms.
Not a fit: Patients without Tuberous Sclerosis Complex or those whose symptoms are unrelated to neuronal growth and guidance may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential therapies for patients with Tuberous Sclerosis Complex, improving their neurological outcomes.
How similar studies have performed: While the specific approach of studying TSC2 mutations in human neurons is relatively novel, similar research has shown promise in understanding neuronal development in other neuro-developmental disorders.
Where this research is happening
Madison, United States
- University of Wisconsin-Madison — Madison, United States (Active)
Researchers
- Principal investigator: Gomez, Timothy M — University of Wisconsin-Madison
- Study coordinator: Gomez, Timothy M
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.