Understanding how genetic variations affect airway disease in primary ciliary dyskinesia.
Official title: Mapping genotype to phenotype in PCD using iPSCs
Funded at Boston University Medical Campus · NIH-11046619 · Data updated 2026-11-12
This study is looking at primary ciliary dyskinesia (PCD) to understand how different genetic changes affect the condition and to find new ways to help treat it, using special cells made from patients' own genes.
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 start | March 1, 2024 |
| Project end | February 28, 2029 |
| Funding year | 2025 |
| Award (this year) | $427,602 |
| NIH project number | 5P01HL170952-02 |
| Project ID | NIH-11046619 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with primary ciliary dyskinesia, particularly those with known genetic mutations.
✕Less likely to help
Patients with other airway diseases or those without a diagnosis of primary ciliary dyskinesia may not benefit from this research.
What this research studies
This research focuses on primary ciliary dyskinesia (PCD), a complex genetic condition that affects the ability of cilia to clear mucus from the airways. By using induced pluripotent stem cells (iPSCs), researchers aim to create airway cells that can mimic the disease's effects. The study will investigate how different genetic mutations contribute to the symptoms of PCD and explore potential pathways for developing targeted therapies. Patients may have their genetic variants analyzed to better understand their specific condition and treatment options.
Why it matters
Potential benefit: If successful, this research could lead to the development of personalized therapies for patients with primary ciliary dyskinesia.
How similar studies have gone: While research on primary ciliary dyskinesia is ongoing, this approach using iPSCs is relatively novel and has not been extensively tested in this context.
Where this research is happening
-
Boston University Medical Campus
Boston, United States Active
Researchers
- Principal investigator: Hawkins, Finn — Boston University Medical Campus
- Study coordinator: Hawkins, Finn
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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.