Mapping heart development enhancers at single-cell level to understand congenital heart disease
Official title: Deciphering the Enhancer Landscape and Regulatory Code of Heart Development at Single-Cell Resolution
Funded at University of Calif-Lawrenc Berkeley Lab · NIH-11280020 · Data updated 2026-11-12
Researchers will map how heart development is controlled by gene-enhancer elements at single-cell resolution to better understand congenital heart disease in humans.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Calif-Lawrenc Berkeley Lab NIH-funded |
| Lab location | 1 site (Berkeley, United States) |
| Project start | August 15, 2026 |
| Project end | April 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $2,057,231 |
| NIH project number | 1R01HL183978-01 |
| Project ID | NIH-11280020 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with congenital heart disease or a family history who may benefit from improved genetic understanding and future targeted therapies.
✕Less likely to help
People without heart-related genetic questions or those not participating in related analyses may not directly benefit.
What this research studies
This project will create a detailed map of heart development by examining how non-coding DNA elements called enhancers control gene activity in different heart cell types. It will combine single-cell multiomics data from human and mouse embryos with in vivo validation in mice and develop deep learning models to predict enhancer function. The result will be a publicly available atlas showing which enhancers are active in which cell types and developmental stages, and how mutations may affect heart formation. This resource could help researchers and clinicians identify genetic causes of congenital heart defects and guide future therapies.
Why it matters
Potential benefit: If successful, the atlas could accelerate understanding of congenital heart defects and inform precision approaches to diagnosis and treatment.
How similar studies have gone: Previous work mapping regulatory elements in development has shown that enhancer maps can reveal disease-associated mutations, supporting potential impact of this approach.
Where this research is happening
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University of Calif-Lawrenc Berkeley Lab
Berkeley, United States Active
Researchers
- Principal investigator: Visel, Axel — University of Calif-Lawrenc Berkeley Lab
- Study coordinator: Visel, Axel
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.