Understanding how mutations in noncoding DNA affect 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-10932980 · Data updated 2026-11-12
This study is looking at how certain changes in noncoding DNA might cause structural birth defects, and it's for families affected by these conditions, as it hopes to find new ways to diagnose and treat them.
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 | 2024 |
| Award (this year) | $808,412 |
| NIH project number | 5R01HD114353-02 |
| Project ID | NIH-10932980 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with unexplained structural birth defects or congenital abnormalities.
✕Less likely to help
Patients with birth defects that have a clear genetic cause or are not related to noncoding mutations may not benefit from this research.
What this research studies
This research investigates the role of noncoding DNA mutations, particularly in distant-acting enhancers, in causing structural birth defects (SBDs). By utilizing advanced sequencing technologies, the study aims to identify and validate these mutations, which have been largely overlooked in previous research. The approach includes creating a comprehensive pipeline to analyze whole genome sequences from unsolved SBD cases, prioritizing mutations based on their potential impact, and testing their effects in living organisms. This could lead to better diagnostic tools and therapeutic strategies for affected individuals.
Why it matters
Potential benefit: If successful, this research could significantly improve the understanding and diagnosis of structural birth defects, leading to better treatment options for patients.
How similar studies have gone: While there have been isolated examples of successful identification of enhancer mutations, this research represents a novel approach to systematically address the challenges in understanding noncoding mutations in birth defects.
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.