Understanding SCN8A Gene Changes in Brain Development and Epilepsy
Utilizing Human Brain Organoids to Model the Differential Effects of SCN8A Mutation on Cortex and Hippocampus
['FUNDING_CAREER'] · UNIVERSITY OF CALIFORNIA LOS ANGELES · NIH-11089365
This work uses miniature brain models grown from human cells to understand how a specific gene change, SCN8A, affects different parts of the brain in children with severe epilepsy.
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-11089365 on ClinicalTrials.gov |
What this research studies
Epilepsy is a serious condition, especially in children, where many do not respond to current medications. This project uses tiny 3D brain models, called organoids, which are grown from human stem cells and can even be made from a patient's own tissue. These organoids help us see how the brain develops and how specific gene changes, like SCN8A, might cause seizures. By studying these models, we hope to learn more about why some children have severe epilepsy and how different brain regions are affected.
Who could benefit from this research
Good fit: This foundational research focuses on understanding severe childhood epilepsies linked to SCN8A gene changes, particularly in children aged 0-11 years.
Not a fit: Patients whose epilepsy is not related to SCN8A mutations or who have adult-onset epilepsy may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of severe childhood epilepsies and help identify new ways to treat patients who do not respond to current medications.
How similar studies have performed: Brain organoid technology is a relatively new but rapidly advancing field, with previous successes in modeling other neurological conditions, making this a promising approach.
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.