Understanding the neurological effects of Tuberous Sclerosis Complex
Official title: Leveraging genetically-encoded heterogeneity to understand TANDs and seizures in novel models of TSC
Funded at Nemours Children's Hospital, Delaware · NIH-11036266 · Data updated 2026-11-12
This study is looking at how different genetic changes in Tuberous Sclerosis Complex (TSC) can affect the severity of symptoms like seizures and other brain issues, using a special mouse model to help find better treatments for people with TSC.
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 | 2025 |
| Award (this year) | $317,858 |
| NIH project number | 5R01NS134491-02 |
| Project ID | NIH-11036266 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Tuberous Sclerosis Complex, particularly those experiencing seizures or neurological disorders.
✕Less likely to help
Patients without a diagnosis of Tuberous Sclerosis Complex or those whose symptoms are not related to the neurological aspects of the condition may not benefit from this research.
What this research studies
This research investigates the neurological consequences of Tuberous Sclerosis Complex (TSC), a genetic disorder that leads to benign tumor growth and is often associated with severe epilepsy and other neurological disorders. The project aims to explore the mechanisms behind the variability in patient outcomes, particularly focusing on how different genetic mutations can lead to diverse symptoms and severity of the condition. By using a novel mouse model that mimics the genetic diversity seen in TSC patients, researchers will study the underlying biology of seizures and TSC-associated neurological disorders (TANDs). This approach may help identify new therapeutic strategies to improve patient outcomes.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that better manage seizures and other neurological issues in patients with Tuberous Sclerosis Complex.
How similar studies have gone: Previous research has shown promise in understanding genetic disorders through similar models, indicating potential for success in this novel approach.
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
Related research
Other NIH-funded projects on the same topics.
-
Pediatric EMS seizures: simpler age-based midazolam dosing
A nationwide trial at EMS agencies tests whether using fixed, age-based dosing of midazolam for seizures in children improves treatment speed and safety.
-
Gene editing therapies to prevent epileptic seizures
A new gene-editing approach aims to reduce seizures in people with epilepsy by directly modifying a brain gene tied to the condition.
-
Detecting Absence Seizures in Kids at Home with a Mobile Recorder
A new mobile app helps doctors remotely diagnose and monitor childhood absence epilepsy using guided hyperventilation and video analysis to speed up treatment.
-
Seizures and long-term outcomes after childhood stroke
This project looks at whether early seizures and inflammation after a childhood stroke are linked to later epilepsy and recovery in kids up to 19 years old.
-
Using the brain’s natural connector to detect and prevent seizures
A study at Case Western Reserve University is exploring whether gently stimulating a natural brain pathway called the corpus callosum can help identify where seizures start and stop them from spreading in people with hard-to-control epilepsy.
-
Disentangling How Inhibitory Brain Cells Shape Seizures in People
This NIH grant tests how specific brain cells that normally calm the brain influence seizures in adults, using advanced optical methods in living subjects.
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.