Using brain organoids to understand how SCN8A mutations affect brain regions in children
Utilizing Human Brain Organoids to Model the Differential Effects of SCN8A Mutation on Cortex and Hippocampus
['FUNDING_CAREER'] · UNIVERSITY OF CALIFORNIA LOS ANGELES · NIH-10849727
This study is looking at how changes in a specific gene called SCN8A affect brain development in kids with severe epilepsy, using special 3D brain models made from their own cells to better understand their unique condition.
Quick facts
| Phase | ['FUNDING_CAREER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA LOS ANGELES (nih funded) |
| Locations | 1 site (LOS ANGELES, UNITED STATES) |
| Trial ID | NIH-10849727 on ClinicalTrials.gov |
What this research studies
This research investigates the impact of SCN8A mutations on brain development, particularly focusing on the cortex and hippocampus, using advanced brain organoid technology. By creating 3D models of the human brain from patient-derived stem cells, researchers aim to replicate the complex structures and functions of these brain regions. This approach allows for a better understanding of how these mutations contribute to severe childhood epilepsy, which often does not respond to standard treatments. Patients' own cells can be used to create organoids, providing a personalized model for studying their specific condition.
Who could benefit from this research
Good fit: Ideal candidates for this research are children aged 0-11 years who have been diagnosed with epilepsy related to SCN8A mutations.
Not a fit: Patients with epilepsy not associated with SCN8A mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments for children with epilepsy caused by SCN8A mutations.
How similar studies have performed: Previous research using brain organoids has shown promise in understanding various neurological conditions, indicating that this approach could yield valuable insights.
Where this research is happening
LOS ANGELES, UNITED STATES
- UNIVERSITY OF CALIFORNIA LOS ANGELES — LOS ANGELES, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SAMARASINGHE, RANMAL A — UNIVERSITY OF CALIFORNIA LOS ANGELES
- Study coordinator: SAMARASINGHE, RANMAL A
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.