How gene switches shape the developing human heart and cause congenital heart defects
Defining and perturbing gene regulatory dynamics in the developing human heart to understand mechanisms of congenital heart defects
Researchers use lab-grown human heart tissue and gene-editing tools to find how gene switches control heart development and lead to congenital heart defects.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-11248750 on NIH RePORTER |
What this research studies
This project uses human induced pluripotent stem cells grown into 3D cardiac organoids that mimic fetal heart development so researchers can follow cell changes over time. Scientists will profile single cells with RNA, ATAC, and protein measurements and generate bulk data on chromatin contacts and RNA polymerase to map regulatory elements. They will use CRISPR to perturb transcription factors and regulatory elements and build computational models that predict how genetic changes alter gene expression during heart formation. The team will validate those models against new data to pinpoint gene regulatory changes likely to cause congenital heart defects.
Who could benefit from this research
Good fit: Ideal participants would be people with congenital heart defects, family members, or individuals willing to donate cells or medical information to support lab-based heart-development research.
Not a fit: People seeking immediate clinical treatment or those with heart problems known to be non-genetic are unlikely to receive direct, immediate benefit from this laboratory-focused research.
Why it matters
Potential benefit: If successful, this work could reveal specific gene regulatory changes behind congenital heart defects, informing better genetic testing and guiding future therapies.
How similar studies have performed: Related single-cell and organoid studies have provided new insights into development, but combining large-scale multi-omics, systematic CRISPR perturbations, and predictive modeling in human cardiac organoids is a relatively new and innovative approach.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Greenleaf, William James — Stanford University
- Study coordinator: Greenleaf, William James
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.