How hidden DNA changes affect coronary artery disease genes
High-throughput cellular genetics to connect noncoding variants to coronary artery disease genes
Researchers are using fast lab methods to find which noncoding DNA changes influence coronary artery disease, aiming to help people with or at risk for CAD.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Broad Institute, INC. NIH-funded |
| Lab location | 1 site (Cambridge, United States) |
| Project ID | NIH-11370141 on NIH RePORTER |
What this research studies
From a patient's point of view, scientists are using powerful, high-throughput lab techniques to link genetic changes found by large DNA studies to the actual genes and cell behaviors in blood vessel cells. They will apply optimized Perturb-seq to measure how turning genes on or off changes gene activity, and pooled perturbation Cell Painting to capture how those changes alter cell shape and structure. By testing thousands of candidate genes from CAD-associated regions, the team hopes to reveal which genes and pathways drive disease in the vessel wall. This work uses human-relevant cell models in a lab at the Broad Institute to map mechanisms that could guide future therapies.
Who could benefit from this research
Good fit: People with coronary artery disease or those at high genetic risk for CAD are the ultimate group who could benefit and might be eligible for future follow-up studies based on these findings.
Not a fit: People seeking an immediate change to their medical care or those without CAD are unlikely to receive direct or immediate benefit from this lab-based research.
Why it matters
Potential benefit: If successful, this work could reveal new targets for drugs or other treatments to prevent or treat coronary artery disease.
How similar studies have performed: Prior genetic and targeted lab studies have solved a few CAD risk regions, but applying high-throughput Perturb-seq and Cell Painting at this scale to many loci is relatively new.
Where this research is happening
Cambridge, United States
- Broad Institute, INC. — Cambridge, United States (Active)
Researchers
- Principal investigator: Gupta, Rajat M — Broad Institute, INC.
- Study coordinator: Gupta, Rajat 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.