Linking PCD gene changes to airway cell behavior using patient-derived stem cells
Mapping genotype to phenotype in PCD using iPSCs
This project uses patient-derived stem cells to link specific gene changes to cilia problems in people with primary ciliary dyskinesia.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston University Medical Campus NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11309144 on NIH RePORTER |
What this research studies
Researchers will turn cells from people with PCD into induced pluripotent stem cells and then make a renewable supply of airway basal cells that can become multiciliated cells. They will use gene-editing tools to knock out or precisely change specific PCD genes in those airway cells and then measure how the cilia work. The team will focus on five high-priority PCD genes to see which genetic changes cause the cilia defects and to test whether the system can clarify uncertain genetic test results. Results should help predict whether a given genetic variant is disease-causing and guide future personalized treatments.
Who could benefit from this research
Good fit: People with a diagnosis of primary ciliary dyskinesia or those with symptoms and unclear genetic test results (variants of uncertain significance) would be the most relevant candidates.
Not a fit: People without PCD or whose genetic changes are not among the specific genes studied are unlikely to get direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could help explain which genetic variants actually cause PCD and point toward more personalized diagnosis and future therapies.
How similar studies have performed: Related lab work using iPSCs and gene editing has shown promise in cystic fibrosis and early PCD research, but applying this approach across many PCD genes is relatively new.
Where this research is happening
Boston, United States
- Boston University Medical Campus — Boston, United States (Active)
Researchers
- Principal investigator: Hawkins, Finn — Boston University Medical Campus
- Study coordinator: Hawkins, Finn
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.