Understanding how distant DNA elements shape birth defects
Official title: Evaluating the Impact of Mutations in Distant-Acting Enhancers in Structural Birth Defects
Funded at University of Calif-Lawrenc Berkeley Lab · NIH-11345846 · Data updated 2026-11-12
Researchers are studying how noncoding DNA regions that regulate genes may cause structural birth defects, aiming to explain previously unsolved cases.
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 21, 2023 |
| Project end | June 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $816,577 |
| NIH project number | 5R01HD114353-04 |
| Project ID | NIH-11345846 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with structural birth defects of unknown genetic cause, especially those with noncoding genome data available from whole-genome sequencing.
✕Less likely to help
Patients whose birth defects are caused by coding mutations or non-genetic factors may see limited direct benefit.
What this research studies
This project focuses on enhancers, noncoding DNA sequences that control when and where genes are turned on during development. By combining whole-genome data from unsolved cases with new functional tests, the team plans to prioritize likely causal enhancer mutations and validate them in living systems. The goal is to build a pipeline that ties specific enhancer changes to observed birth defects, improving diagnosis and opening doors for targeted therapies. The work will involve computational analysis, experimental validation, and collaboration with clinical teams to translate findings toward patient care.
Why it matters
Potential benefit: If successful, this research could improve diagnostic clarity for many birth defects and inform future therapeutic strategies targeting gene regulation.
How similar studies have gone: Prior work has shown that regulatory mutations can cause developmental disorders, with some progress in linking enhancers to disease; this project aims to scale and validate those approaches.
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.