Why Tuberous Sclerosis causes seizures and behavioral problems
Leveraging genetically-encoded heterogeneity to understand TANDs and seizures in novel models of TSC
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 ID | NIH-11237079 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: People with Tuberous Sclerosis Complex (TSC), especially those who have seizures or learning and behavioral challenges, are the population this research aims to help.
Not a fit: Patients without TSC or those seeking immediate clinical treatment are unlikely to receive direct benefit from this lab-based, preclinical project.
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 performed: 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
Wilmington, United States
- Nemours Children's Hospital, Delaware — Wilmington, United States (Active)
Researchers
- Principal investigator: Hernan, Amanda — Nemours Children's Hospital, Delaware
- Study coordinator: Hernan, Amanda
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.