Understanding how mTOR signaling affects brain development in Tuberous Sclerosis Complex
Identifying mTOR Dependent Periods During Brain Development
This study is looking at how a specific signaling process in the brain affects the development of children with Tuberous Sclerosis Complex (TSC), which can cause problems like epilepsy and learning difficulties, to help find the best times to offer treatments that could improve their brain health.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Colorado Denver NIH-funded |
| Lab location | 1 site (Aurora, UNITED STATES) |
| Project ID | NIH-11248998 on NIH RePORTER |
What this research studies
This research investigates the role of mTOR signaling in the development of the brain in patients with Tuberous Sclerosis Complex (TSC), a genetic disorder that affects multiple organ systems. By using patient-derived cells, the study aims to identify specific periods during brain development when mTOR signaling is crucial. Researchers will analyze single-cell measurements of proteins and RNA to uncover how mutations in the TSC1 and TSC2 genes disrupt normal brain development and lead to neurological issues such as epilepsy and intellectual disability. The findings could provide insights into the timing and nature of interventions that may benefit patients with TSC.
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 a diagnosis of Tuberous Sclerosis Complex or those not exhibiting neurological symptoms may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to targeted therapies that improve neurological outcomes for patients with Tuberous Sclerosis Complex.
How similar studies have performed: Previous research has shown promising results in understanding mTOR signaling in other contexts, but this specific approach in TSC is relatively novel.
Where this research is happening
Aurora, UNITED STATES
- University of Colorado Denver — Aurora, United States (Active)
Researchers
- Principal investigator: Ihrie, Rebecca a — University of Colorado Denver
- Study coordinator: Ihrie, Rebecca a
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.