Understanding Genetic Changes in Structural Birth Defects
Evaluating the Impact of Mutations in Distant-Acting Enhancers in Structural Birth Defects
This work aims to find new genetic causes for structural birth defects that are currently unexplained, helping families get answers.
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 ID | NIH-11105940 on NIH RePORTER |
What this research studies
Many structural birth defects, which are abnormalities affecting various body parts, still don't have a clear genetic cause, making diagnosis and treatment difficult. Our team believes that changes in the 'noncoding' parts of our DNA, which make up most of our genetic material, might be responsible for many of these unsolved cases. We are developing new ways to find these specific genetic changes, called distant-acting enhancers, and then test if they truly cause birth defects. This will help us understand why these conditions happen and provide better information for families.
Who could benefit from this research
Good fit: This research is relevant for individuals and families affected by structural birth defects, especially those where the cause is currently unknown.
Not a fit: Patients whose birth defects already have a known genetic cause may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to clearer diagnoses for families affected by structural birth defects and open doors for new treatment approaches in the future.
How similar studies have performed: While isolated examples of enhancer mutations causing birth defects exist, this project introduces a novel, integrated approach to identify and validate these mutations on a larger scale.
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.