Finding disease-causing changes in ion channel genes
High-throughput discovery of disease-associated ion channel variants
This project looks for gene changes in ion channels that might explain health problems in people with suspected genetic channel disorders.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University Medical Center NIH-funded |
| Lab location | 1 site (Nashville, United States) |
| Project ID | NIH-11325752 on NIH RePORTER |
What this research studies
We will analyze genetic and health records from large biobanks to spot variants in 76 ion channel genes linked to disease. Next, we will use high-throughput automated patch-clamp machines to test hundreds of variants in the lab and see how each change affects channel function. The initial lab focus is on five key ion channel genes that affect different organs and types of ions. Together the database analyses and lab testing aim to reclassify uncertain genetic findings and highlight variants that likely cause disease.
Who could benefit from this research
Good fit: Ideal candidates are people with a family history or clinical signs of channelopathies such as unexplained seizures, irregular heart rhythms, muscle weakness, or who carry variants in ion channel genes.
Not a fit: People whose conditions are clearly caused by non-genetic issues or unrelated diseases are unlikely to benefit directly from this work.
Why it matters
Potential benefit: If successful, this could help doctors interpret genetic test results more accurately and speed diagnosis and treatment for people with channelopathies.
How similar studies have performed: Previous functional testing of ion channel variants has reclassified some variants successfully, but applying high-throughput automated testing at this scale is relatively new.
Where this research is happening
Nashville, United States
- Vanderbilt University Medical Center — Nashville, United States (Active)
Researchers
- Principal investigator: Glazer, Andrew M. — Vanderbilt University Medical Center
- Study coordinator: Glazer, Andrew M.
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.