Understanding how distant DNA switches control gene activity in the body
Official title: Functionally Assessing Transcriptional Enhancers In Vivo
Funded at University of Calif-Lawrenc Berkeley Lab · NIH-11379484 · Data updated 2026-11-12
This NIH grant explores how far-away DNA elements called enhancers turn genes on and off in human development and disease, using mouse models and other lab methods.
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 | September 26, 2006 |
| Project end | May 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $1,412,170 |
| NIH project number | 5R01HG003988-21 |
| Project ID | NIH-11379484 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals whose genetic variation affects regulatory DNA and contributes to developmental or disease processes, or those whose tissue samples may inform enhancer studies.
✕Less likely to help
People without genetic variants impacting enhancer function or those not connected to the research questions may not directly benefit.
What this research studies
Researchers will study enhancer elements that regulate gene activity across different tissues and times in development and disease. They have built tools for identifying and testing these enhancers in vivo, including mouse models and publicly available enhancer data. The project aims to connect specific enhancer changes to how diseases develop and present in patients, with ongoing work building toward better genomic interpretation. Outcomes may improve how doctors interpret genetic findings from patients and how future therapies are designed.
Why it matters
Potential benefit: Advances in how we interpret genetic variants could lead to better diagnosis and personalized approaches for genetic diseases.
How similar studies have gone: Previous work has yielded major insights and resources, such as enhanced enhancer discovery methods and a comprehensive enhancer browser.
Where this research is happening
-
University of Calif-Lawrenc Berkeley Lab
Berkeley, United States Active
Researchers
- Principal investigator: Pennacchio, Len Alexander — University of Calif-Lawrenc Berkeley Lab
- Study coordinator: Pennacchio, Len Alexander
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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.