Understanding the neurological effects of Tuberous Sclerosis Complex
Leveraging genetically-encoded heterogeneity to understand TANDs and seizures in novel models of TSC
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 ID | NIH-11036266 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Tuberous Sclerosis Complex, particularly those experiencing seizures or neurological disorders.
Not a fit: 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.
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 performed: 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
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.