Analyzing gene expression related to birth defects in mice
Project I - Transcriptomic Analysis of Structural Birth Defects in Mouse Developmental Mutants
This study is looking at how tiny changes in genes in mice can help us understand the causes of certain birth defects, especially those related to a specific signaling pathway, so we can learn more about the genetic factors that might affect people with similar conditions.
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-11003301 on NIH RePORTER |
What this research studies
This research investigates how gene expression at the single-cell level in mice with specific mutations can reveal insights into structural birth defects. By using a technique called combinatorial indexing, researchers will analyze gene expression patterns to identify potential signatures that correlate with developmental signaling pathways. The study will focus on known mutations in the Shh signaling pathway and explore novel genes linked to human birth defects. This approach aims to enhance our understanding of the genetic factors contributing to these conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with a family history of structural birth defects or those diagnosed with genetic conditions related to developmental anomalies.
Not a fit: Patients without a genetic predisposition to birth defects or those not affected by structural anomalies may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights into the genetic causes of birth defects, potentially informing prevention and treatment strategies.
How similar studies have performed: Other research has shown promise in using single-cell transcriptomic analysis to uncover genetic factors in developmental conditions, suggesting that this approach could yield valuable insights.
Where this research is happening
Seattle, United States
- Seattle Children's Hospital — Seattle, United States (Active)
Researchers
- Principal investigator: Beier, David R. — Seattle Children's Hospital
- Study coordinator: Beier, David R.
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.