Linking DNA differences to how genes work and affect heart health
Stanford Center for Connecting DNA Variants to Function and Phenotype
This project will map how common noncoding DNA changes influence gene activity in human heart cells to help people with cardiovascular conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-11128495 on NIH RePORTER |
What this research studies
Researchers at Stanford will turn human pluripotent stem cells into four types of heart-related cells and use single-cell assays to find candidate regulatory DNA regions. They will apply sensitive CRISPR tiling methods to edit those regions and observe which DNA changes alter gene expression and cellular behavior. Advanced computer models (ABC and BPNet) will predict which variants affect gene regulation and guide experiments. Together these lab and computational tools aim to connect thousands of noncoding DNA variants to function and phenotype.
Who could benefit from this research
Good fit: People with inherited or common cardiovascular conditions who can consent to genetic data sharing or sample donation, particularly those able to work with Stanford-affiliated teams, would be the most relevant candidates to engage with related efforts.
Not a fit: Patients with conditions unrelated to cardiovascular genetics or those seeking immediate clinical treatments are unlikely to receive direct benefit from this laboratory-focused research.
Why it matters
Potential benefit: If successful, this work could reveal the specific DNA changes and genes that drive heart disease, pointing to new diagnostic markers and targets for future therapies.
How similar studies have performed: Individual elements like single-cell assays, CRISPR perturbations, and predictive models have demonstrated promise in prior lab work, but using them together at this scale to map thousands of noncoding variants is relatively new.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Engreitz, Jesse M — Stanford University
- Study coordinator: Engreitz, Jesse 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.