How DNA differences change gene activity and affect disease
Using genomic perturbations to understand trait-associated human genetic variation
Researchers are using targeted genome edits and computer analyses to find hidden DNA switches that change gene activity and can contribute to autoimmune, heart, and metabolic conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Salk Institute for Biological Studies NIH-funded |
| Lab location | 1 site (La Jolla, UNITED STATES) |
| Project ID | NIH-11189724 on NIH RePORTER |
What this research studies
This project uses CRISPR-based tiling deletions to remove small DNA segments across large regions and test which pieces control nearby genes. Screens are performed in primary T cells (immune cells) and paired with genetic findings from large human studies to focus on disease-linked regions. Computational analyses will connect non-coding variants from GWAS to the genes they regulate, including regulatory elements that lack standard molecular marks. The team aims to create catalogs of regulatory sequences and explain how common genetic differences alter gene regulation in disease-relevant cells.
Who could benefit from this research
Good fit: People with autoimmune disorders or cardiovascular or metabolic conditions, as well as healthy volunteers willing to donate blood for T cell samples, would be most relevant to this work.
Not a fit: Patients seeking immediate treatment changes or those with conditions unrelated to gene regulation (for example traumatic injuries) are unlikely to receive direct clinical benefit from this basic research.
Why it matters
Potential benefit: If successful, this work could pinpoint the specific DNA switches that drive disease risk and suggest new diagnostic markers or drug targets.
How similar studies have performed: Related CRISPR-based screens have identified regulatory elements before, but large-scale tiling deletions in primary human T cells to link non-coding GWAS variants to genes is a relatively new approach.
Where this research is happening
La Jolla, UNITED STATES
- Salk Institute for Biological Studies — La Jolla, United States (Active)
Researchers
- Principal investigator: Mcvicker, Graham — Salk Institute for Biological Studies
- Study coordinator: Mcvicker, Graham
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.