Understanding the genetics behind structural birth defects in children
Project III - Comprehensive Genomic Evaluation of Structural Birth Defects
This study is looking at the genetic reasons behind certain birth defects in children that happen early in pregnancy, using new DNA testing methods to find hidden genetic changes that might be causing these issues.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Seattle Children's Hospital NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project ID | NIH-11003306 on NIH RePORTER |
What this research studies
This research investigates the genetic causes of structural birth defects (SBD) that affect children, particularly those occurring in the first 10 weeks of development. By utilizing advanced DNA sequencing technologies, the study aims to uncover genetic variations that are often missed by standard methods. The research focuses on identifying hidden genetic factors, such as duplications and epigenetic modifications, that contribute to these birth defects. Children with SBD will be part of prospective cohorts, allowing for a comprehensive evaluation of their genetic makeup.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with structural birth defects, particularly those under the age of 11.
Not a fit: Patients without structural birth defects or those over the age of 11 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for children with structural birth defects.
How similar studies have performed: Previous research has shown success in identifying genetic factors related to birth defects using advanced sequencing technologies, indicating a promising approach.
Where this research is happening
Seattle, United States
- Seattle Children's Hospital — Seattle, United States (Active)
Researchers
- Principal investigator: Dipple, Katrina M — Seattle Children's Hospital
- Study coordinator: Dipple, Katrina M
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.