Investigating how genetic variants affect brain function in long QT syndrome patients
Official title: Probing mechanisms of long QT type 2-associated neuronal dysfunction using gene-edited stem cell-derived neurons
Funded at University of Michigan at Ann Arbor · NIH-11055811 · Data updated 2026-11-12
This study is looking at how certain genetic changes linked to long QT syndrome affect nerve cells in the brain, which could help explain why some people with epilepsy are at risk for serious problems like sudden unexplained death; by using special stem cells to create these nerve cells, researchers hope to find new ways to improve care for patients.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project start | December 1, 2024 |
| Project end | November 30, 2026 |
| Funding year | 2025 |
| Award (this year) | $195,000 |
| NIH project number | 1R21NS136833-01A1 |
| Project ID | NIH-11055811 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with long QT syndrome, particularly those with KCNH2 genetic variants.
✕Less likely to help
Patients without long QT syndrome or those whose condition is not linked to KCNH2 variants may not benefit from this research.
What this research studies
This research focuses on understanding how specific genetic variants associated with long QT syndrome disrupt the function of neurons. By using gene-edited stem cells to create neurons, researchers aim to uncover the cellular mechanisms that link these genetic changes to increased risks of epilepsy and sudden unexplained death in epilepsy (SUDEP) in patients. The study will explore the relationship between cardiac and neuronal electrical activity, providing insights into how heart and brain functions are interconnected. This could lead to better understanding and potential treatments for patients affected by these conditions.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments and management strategies for patients with long QT syndrome and related neurological issues.
How similar studies have gone: While the specific approach of linking KCNH2 variants to neuronal dysfunction is novel, similar studies have shown success in understanding genetic influences on neuronal and cardiac function.
Where this research is happening
-
University of Michigan at Ann Arbor
Ann Arbor, United States Active
Researchers
- Principal investigator: Jones, David K. — University of Michigan at Ann Arbor
- Study coordinator: Jones, David K.
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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.