Identifying subgroups in genetic epilepsies and brain disorders
Official title: Subgroup delineation in genetic epilepsies and developmental brain disorders
Funded at Children's Hosp of Philadelphia · NIH-11058352 · Data updated 2026-11-12
This study is looking at how certain genes might affect the symptoms and treatment responses in people with neurodevelopmental disorders and epilepsy, so we can better understand their needs and improve their care.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | February 15, 2023 |
| Project end | March 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $636,135 |
| NIH project number | 5R01NS127830-03 |
| Project ID | NIH-11058352 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with genetic epilepsies or developmental brain disorders, particularly those with known genetic variants.
✕Less likely to help
Patients without a genetic diagnosis or those with non-genetic forms of epilepsy or brain disorders may not benefit from this research.
What this research studies
This research investigates the relationship between genetic variants and clinical features in patients with neurodevelopmental disorders and epilepsy. By utilizing a novel approach based on the Human Phenotype Ontology, the study aims to analyze longitudinal data to identify distinct subgroups of patients and their responses to specific treatments. This will help in understanding how different genetic factors influence the progression and treatment outcomes of these conditions. The research focuses on improving the assessment of clinical features to enhance patient care and treatment strategies.
Why it matters
Potential benefit: If successful, this research could lead to more personalized treatment plans for patients with genetic epilepsies and developmental brain disorders.
How similar studies have gone: Previous research has shown promise in using genetic data to inform treatment strategies in similar patient populations, indicating that this approach could yield valuable insights.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Helbig, Ingo — Children's Hosp of Philadelphia
- Study coordinator: Helbig, Ingo
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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.