Why Tuberous Sclerosis causes seizures and behavioral problems
Official title: Leveraging genetically-encoded heterogeneity to understand TANDs and seizures in novel models of TSC
Funded at Nemours Children's Hospital, Delaware · NIH-11237079 · Data updated 2026-11-12
Researchers are using new genetic mouse models to learn why people with Tuberous Sclerosis (TSC) develop seizures and related behavioral and learning difficulties.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Nemours Children's Hospital, Delaware NIH-funded |
| Lab location | 1 site (Wilmington, United States) |
| Project start | February 16, 2024 |
| Project end | November 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $351,799 |
| NIH project number | 5R01NS134491-03 |
| Project ID | NIH-11237079 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with Tuberous Sclerosis Complex (TSC), especially those who have seizures or learning and behavioral challenges, are the population this research aims to help.
✕Less likely to help
Patients without TSC or those seeking immediate clinical treatment are unlikely to receive direct benefit from this lab-based, preclinical project.
What this research studies
I want to know why TSC affects the brain so differently from person to person, even when they have the same gene change. The team created mice with a TSC1 gene change and introduced controlled genetic background differences to mimic the variety seen in people. They will study how brain cells and neural networks produce seizures and TSC-associated neuropsychiatric problems (TANDs). The goal is to uncover biological mechanisms that could point to new treatment targets.
Why it matters
Potential benefit: If successful, this work could point to new treatment targets that reduce seizures and improve behavior and thinking in people with TSC.
How similar studies have gone: Related animal-model studies have revealed mechanisms of TSC brain disease, and this project builds on that prior work by modeling genetic diversity to better match patient variability.
Where this research is happening
-
Nemours Children's Hospital, Delaware
Wilmington, United States Active
Researchers
- Principal investigator: Hernan, Amanda — Nemours Children's Hospital, Delaware
- Study coordinator: Hernan, Amanda
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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.