Understanding how mutations in noncoding DNA affect birth defects
Evaluating the Impact of Mutations in Distant-Acting Enhancers in Structural Birth Defects
['FUNDING_R01'] · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · NIH-10932980
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
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB (nih funded) |
| Locations | 1 site (BERKELEY, UNITED STATES) |
| Trial ID | NIH-10932980 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with unexplained structural birth defects or congenital abnormalities.
Not a fit: Patients with birth defects that have a clear genetic cause or are not related to noncoding mutations may not benefit from this research.
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 performed: 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
BERKELEY, UNITED STATES
- 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 below.