Mapping symptom patterns in genetic childhood epilepsies
A computational phenotyping approach to characterize neurogenetic disorders
This project uses computer tools to link genetic changes with symptoms in children who have genetic epilepsies and neurodevelopmental disorders.
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 ID | NIH-11301017 on NIH RePORTER |
What this research studies
If my child has a genetic epilepsy, researchers will convert medical records into standardized symptom descriptions using the Human Phenotype Ontology so symptoms can be compared across many patients. They will combine those symptom profiles with exome and trio genetic data from over 9,000 to 13,000 individuals to find how specific gene variants relate to clinical features. The team will analyze the 20 most common genetic epilepsies to identify subgroups that might predict outcomes or responses to treatment. This work builds on earlier successes with SCN2A and STXBP1 and aims to scale that approach to a much larger patient group.
Who could benefit from this research
Good fit: Children and adolescents with known or suspected genetic epilepsies or developmental brain disorders, especially those with genetic (exome) test results or willing to share clinical records, are the ideal candidates.
Not a fit: Adults without childhood-onset genetic epilepsies or people without genetic testing or clinical records available are less likely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this could help clinicians match specific gene variants to likely symptom patterns and treatment responses, improving prognosis and care planning for affected children.
How similar studies have performed: Related computational phenotype work has already produced clinically useful insights for SCN2A and STXBP1 disorders, so the approach has prior success but is being scaled up.
Where this research is happening
Philadelphia, United States
- 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 below.