Understanding genetic causes of childhood epilepsy
A multi-omics approach to understanding pediatric epilepsies
This study is looking at the genetic reasons behind serious brain disorders in children that cause seizures and are hard to treat, with the hope of finding better, personalized treatments for those who haven't been diagnosed yet.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | St. Jude Children's Research Hospital Graduate School of Biomedical Sciences, LLC NIH-funded |
| Lab location | 1 site (Memphis, United States) |
| Project ID | NIH-11071728 on NIH RePORTER |
What this research studies
This research investigates the genetic factors contributing to developmental and epileptic encephalopathies (DEEs) in children, which are severe neurological disorders often resistant to treatment. By utilizing advanced sequencing technologies and DNA methylation analysis, the study aims to identify genetic causes in patients who currently have unresolved diagnoses. The goal is to develop precision therapies tailored to the specific genetic alterations found in these patients, ultimately improving their treatment outcomes. The research will analyze data from over 500 individuals to uncover potential biomarkers and genetic signatures associated with DEEs.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with developmental and epileptic encephalopathies, particularly those with unresolved genetic diagnoses.
Not a fit: Patients with epilepsy that is well understood and has established treatment protocols may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and targeted therapies for children suffering from drug-resistant epilepsy.
How similar studies have performed: Previous research has shown promise in using genomic approaches to identify genetic causes of neurological disorders, indicating that this approach could yield valuable insights.
Where this research is happening
Memphis, United States
- St. Jude Children's Research Hospital Graduate School of Biomedical Sciences, LLC — Memphis, United States (Active)
Researchers
- Principal investigator: Laflamme, Christy — St. Jude Children's Research Hospital Graduate School of Biomedical Sciences, LLC
- Study coordinator: Laflamme, Christy
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.