Understanding how CHD2 gene mutations cause epilepsy using human brain models
Official title: Uncovering mechanisms of CHD2-associated epilepsy using human cortical organoids
Funded at University of Texas San Antonio · NIH-10791545 · Data updated 2026-11-12
This study is looking at how changes in the CHD2 gene might cause severe epilepsy in children, using tiny brain models to understand how these gene changes affect brain development and could help find new treatments for epilepsy.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas San Antonio NIH-funded |
| Lab location | 1 site (San Antonio, United States) |
| Project start | September 15, 2023 |
| Project end | August 31, 2025 |
| Funding year | 2023 |
| Award (this year) | $412,500 |
| NIH project number | 1R21NS135514-01 |
| Project ID | NIH-10791545 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with developmental and epileptic encephalopathy associated with CHD2 mutations.
✕Less likely to help
Patients with epilepsy not linked to CHD2 mutations or those with other unrelated neurological conditions may not benefit from this research.
What this research studies
This research investigates the role of the CHD2 gene in causing severe childhood epilepsy known as developmental and epileptic encephalopathy (DEE). By utilizing human cortical organoids, which are miniaturized and simplified versions of the brain, researchers aim to uncover the mechanisms by which mutations in the CHD2 gene affect brain development and function. The study will explore how these mutations disrupt the normal growth and regulation of brain cells, particularly focusing on the development of GABAergic interneurons, which are crucial for controlling neuronal excitability. This approach aims to provide insights that could lead to new therapeutic strategies for managing epilepsy.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for children suffering from epilepsy linked to CHD2 mutations.
How similar studies have gone: Previous studies have shown promising results in understanding gene-related mechanisms of epilepsy, but this specific approach using human cortical organoids is relatively novel.
Where this research is happening
-
University of Texas San Antonio
San Antonio, United States Active
Researchers
- Principal investigator: Varma, Parul — University of Texas San Antonio
- Study coordinator: Varma, Parul
Related research
Other NIH-funded projects on the same topics.
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-
Closed-loop control of interneuron timing to influence seizures and memory in epilepsy
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-
Epilepsy Data Ecosystem: A Big-Data Sharing Platform for Better Care
A national effort to collect and share large, multi‑modal brain data from people with medication‑resistant epilepsy to speed discoveries and improve treatment options.
-
Exploring epilepsy genes in zebrafish to understand human brain seizures
A study in zebrafish will model human epilepsy genes to help explain how certain brain mutations contribute to seizures.
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New MRI tools to better plan pediatric epilepsy surgery
A new MRI-based approach helps doctors decide the best time to surgically remove brain tissue in children with difficult-to-control seizures.
-
Sahel Epilepsy Study: finding patterns in epilepsy in rural Africa and its links to genes
A plan to study epilepsy in rural Nigeria to discover how common it is, what factors affect risk, and how genetics may influence it, with results that could improve care for people with epilepsy.
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.