Mapping the DNA 'switches' and genetic variants that change how genes work
High-Throughput Functional Annotation of Gene Regulatory Elements and Variants Critical to Complex Cellular Phenotypes
Using new CRISPR tools and single-cell sequencing, researchers will find which noncoding DNA elements and variants change gene activity and cell behavior to help people with genetic conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Duke University NIH-funded |
| Lab location | 1 site (Durham, United States) |
| Project ID | NIH-11123294 on NIH RePORTER |
What this research studies
Researchers will use high-throughput CRISPR methods to turn on or off suspected regulatory DNA 'switches' in cells and observe how genes and cell states change. They pair these perturbations with single-cell RNA sequencing to identify which genes each element controls and use population-scale reporter assays to test the effects of many variants. The team also studies effects in engineered mice to see how elements act in whole tissues and shares these methods across a research consortium to scale the effort. The goal is to create a genome-wide map linking noncoding variants to cell function that can inform future diagnostics and therapies.
Who could benefit from this research
Good fit: People with inherited or unexplained genetic conditions, or those willing to donate blood or tissue for studies linking their genetic variants to cell function, would be most relevant.
Not a fit: Patients seeking immediate treatment benefits or those with conditions unrelated to gene regulation are unlikely to gain direct, short-term benefit from this research.
Why it matters
Potential benefit: If successful, this work could reveal how many noncoding genetic variants cause disease, improving genetic diagnoses and pointing to new treatment targets.
How similar studies have performed: Previous CRISPR-based and single-cell studies have identified regulatory elements in focused settings, but this large-scale, genome-wide integration of methods is newer and more ambitious.
Where this research is happening
Durham, United States
- Duke University — Durham, United States (Active)
Researchers
- Principal investigator: Gersbach, Charles a. — Duke University
- Study coordinator: Gersbach, Charles a.
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.