Understanding genetic causes of neurodevelopmental disorders and epilepsy
Official title: A computational phenotyping approach to characterize neurogenetic disorders
Funded at Children's Hosp of Philadelphia · NIH-11058348 · Data updated 2026-11-12
This study is looking at how certain genes might affect the symptoms and treatment of epilepsy in children with neurodevelopmental disorders, and it's designed to help doctors provide better care by understanding these connections.
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) | $631,987 |
| NIH project number | 5R01NS131512-03 |
| Project ID | NIH-11058348 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children aged 0-11 years who have been diagnosed with neurodevelopmental disorders or epilepsy linked to genetic factors.
✕Less likely to help
Patients who do not have a genetic basis for their neurodevelopmental disorders or epilepsy may not benefit from this research.
What this research studies
This research investigates how specific genetic variations relate to clinical features in children with neurodevelopmental disorders and epilepsy. By analyzing data from over 9,000 individuals, the study aims to identify patterns that link genetic information to epilepsy symptoms and treatment responses. The approach utilizes a novel method based on the Human Phenotype Ontology to streamline the assessment of clinical features, which is typically a time-consuming process. The ultimate goal is to enhance clinical care by improving our understanding of genotype-phenotype correlations in genetic epilepsies.
Why it matters
Potential benefit: If successful, this research could lead to more personalized and effective treatment strategies for children with genetic epilepsies.
How similar studies have gone: Previous research using similar approaches has shown promise in understanding genetic disorders, indicating that this methodology 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
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.