Faster lab methods to test how genetic changes affect health
Development of scalable methods for rapid phenotyping and functional testing of variants
This project builds faster lab tools so scientists can test whether specific gene changes found in people cause disease.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Oklahoma Medical Research Foundation NIH-funded |
| Lab location | 1 site (Oklahoma City, United States) |
| Project ID | NIH-11132637 on NIH RePORTER |
What this research studies
Researchers will use zebrafish as a living test system to screen gene changes linked to human disease, starting with a library of 80 gene knockouts to create a rapid phenotyping pipeline. Next, they will optimize CRISPR base editors that can make single-letter DNA changes and expand the range of sites those editors can target. The team will apply the improved editors to many candidate genes to see which specific variants produce disease-related effects. All work is lab-based using fish models, gene-editing, and automated phenotyping approaches to speed functional testing.
Who could benefit from this research
Good fit: People with rare or unexplained genetic conditions or individuals whose genetic tests found variants of uncertain significance would be most likely to benefit from these findings.
Not a fit: Patients whose conditions are not linked to genetic variants or who need immediate clinical treatment are unlikely to see direct benefit from this lab-based research.
Why it matters
Potential benefit: If successful, this work could speed up identification of which genetic variants actually cause disease, helping guide diagnosis and future treatment development.
How similar studies have performed: Zebrafish knockouts and CRISPR/Cas9 approaches have been used successfully to link genes to disease, but scalable, high-efficiency base-editing to model human single-nucleotide variants is newer and less established.
Where this research is happening
Oklahoma City, United States
- Oklahoma Medical Research Foundation — Oklahoma City, United States (Active)
Researchers
- Principal investigator: Varshney, Gaurav K — Oklahoma Medical Research Foundation
- Study coordinator: Varshney, Gaurav K
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.