Understanding DNA enhancer switches that control gene activity in living tissues
Official title: Functionally Assessing Transcriptional Enhancers In Vivo
Funded at University of Calif-Lawrenc Berkeley Lab · NIH-11098698 · Data updated 2026-11-12
This project maps how DNA 'enhancer' switches turn genes on and off across tissues to help explain genetic changes linked to disease.
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 | 2025 |
| Award (this year) | $1,412,170 |
| NIH project number | 5R01HG003988-20 |
| Project ID | NIH-11098698 on NIH RePORTER |
Who could benefit from this research
✓Could help
People whose whole-genome sequencing finds variants in non-coding regions or patients with rare genetic conditions of unclear cause may benefit from the resulting maps and annotations.
✕Less likely to help
Patients looking for an immediate new therapy are unlikely to benefit since this is foundational laboratory research rather than a clinical treatment trial.
What this research studies
As a patient, this project means researchers are testing which DNA enhancer sequences control gene activity using engineered mice and tissue experiments. They use lab techniques like ChIP-seq and in vivo mouse engineering to observe enhancer activity and compare patterns between human and mouse sequences. The team curates these validated enhancers into the VISTA Enhancer Browser so clinicians and researchers can look up experimentally proven regulatory elements. Over time the goal is to make it easier to interpret whole-genome sequencing results that show variants outside of protein-coding genes.
Why it matters
Potential benefit: If successful, this work could help doctors interpret non-coding DNA changes and link them to diagnoses or future targeted treatments.
How similar studies have gone: The program has a long track record—including the first ChIP-seq from mammalian tissues and the VISTA Enhancer Browser—though directly linking enhancer variants to patient outcomes is still emerging.
Where this research is happening
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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
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.