Rabbit model of KCNH2-related epilepsy, SUDEP, and Long QT syndrome type 2
Development of a Genetic Rabbit Model of Kcnh2-Mediated Epilepsy, SUDEP, & Long QT Syndrome Type 2
Researchers are creating rabbits with a human-like KCNH2 gene change to help find safer seizure treatments and reduce sudden-death risk for people with KCNH2-related epilepsy and Long QT syndrome.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Upstate Medical University NIH-funded |
| Lab location | 1 site (Syracuse, United States) |
| Project ID | NIH-11331937 on NIH RePORTER |
What this research studies
If you or a family member have a KCNH2 genetic change, this project will make rabbits carrying the same pore‑domain mutation using CRISPR gene editing so the animals more closely mimic the human condition. The team will study how the faulty KCNH2 (Kv11.1) channel affects heart rhythms and brain electrical activity that lead to seizures and SUDEP. Scientists will use those findings to test anti-seizure medicines for both seizure control and cardiac safety in a model that better matches human heart and brain physiology than common rodent models. The goal is to create a realistic platform to screen treatments and understand why some KCNH2 mutations increase seizure and sudden-death risk.
Who could benefit from this research
Good fit: People with known KCNH2 (Kv11.1) variants—particularly pore‑domain mutations—and individuals diagnosed with Long QT syndrome type 2 who have or are at risk for seizures would be most relevant to this work.
Not a fit: People whose epilepsy is caused by unrelated genes or non-genetic factors, or who do not have Long QT/KCNH2 variants, are unlikely to receive direct benefit from this specific model.
Why it matters
Potential benefit: This model could speed development of safer anti-seizure drugs and strategies to predict or prevent SUDEP in people with KCNH2/LQT2 variants.
How similar studies have performed: Rodent models exist but often fail to reproduce human cardiac and brain features, so creating a CRISPR rabbit model is a novel translational approach rather than an established, widely proven solution.
Where this research is happening
Syracuse, United States
- Upstate Medical University — Syracuse, United States (Active)
Researchers
- Principal investigator: Auerbach, David Scott — Upstate Medical University
- Study coordinator: Auerbach, David Scott
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.