How ABCA3 gene changes affect lung health in infants and children
Functional Characterization of ABCA3 Genomic Variants
This project finds how different ABCA3 gene changes disrupt lung-cell function in infants and children with genetic surfactant-related lung disease.
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-11134242 on NIH RePORTER |
What this research studies
Researchers will examine rare ABCA3 gene changes that cause neonatal breathing failure and childhood interstitial lung disease by studying how mutant ABCA3 proteins behave in lung cells. They will use human-derived lung cells and genetic data to see whether variants disrupt protein trafficking or lipid transport in alveolar type 2 cells and whether they trigger cell stress and protein-degradation pathways. The team will link specific genetic variants to distinct cellular problems and test compounds that might correct those defects. This work aims to create a map of variant-specific mechanisms to guide future targeted therapies.
Who could benefit from this research
Good fit: Children (newborns through childhood) with biallelic or suspected disease-causing ABCA3 variants, or families with a diagnosis of ABCA3-related neonatal respiratory failure or childhood interstitial lung disease, would be the most relevant candidates.
Not a fit: People whose lung disease is caused by other genes, environmental exposures, or who are only carriers with a single ABCA3 variant are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could enable treatments tailored to specific ABCA3 mutations and improve prognosis and management for affected infants and children.
How similar studies have performed: Other genetic lung-disease programs have shown that variant-specific modulators can work in principle (for example CFTR modulators in cystic fibrosis), but ABCA3-targeted therapies are largely novel and at an early stage.
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.