Understanding genetic changes in a key lung protein related to breathing issues in infants
Functional Characterization of ABCA3 Genomic Variants
This study is looking at how certain changes in a gene called ABCA3 affect lung health in babies, especially those with breathing problems, to help find better treatments for them.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project ID | NIH-10774244 on NIH RePORTER |
What this research studies
This research investigates how specific genetic variants in the ABCA3 gene affect the production of surfactant, a substance crucial for healthy lung function in infants. By examining these genetic changes, the study aims to uncover the mechanisms behind neonatal respiratory distress syndrome (RDS) and childhood interstitial lung disease (chILD). The approach includes analyzing the impact of these variants on lung cell function and exploring potential targeted therapies that could improve treatment outcomes for affected children. The research could lead to more effective, personalized treatments for infants suffering from severe respiratory issues.
Who could benefit from this research
Good fit: Ideal candidates for this research are infants and young children diagnosed with neonatal respiratory distress syndrome or childhood interstitial lung disease linked to ABCA3 gene variants.
Not a fit: Patients with respiratory issues not related to genetic variants in the ABCA3 gene may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to the development of targeted therapies that significantly improve lung function and quality of life for infants with genetic respiratory disorders.
How similar studies have performed: Previous research has successfully developed targeted therapies for other genetic conditions, suggesting potential for similar advancements in this area.
Where this research is happening
Saint Louis, United States
- Washington University — Saint Louis, United States (Active)
Researchers
- Principal investigator: Wambach, Jennifer — Washington University
- Study coordinator: Wambach, Jennifer
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.