How CFTR genes affect cystic fibrosis and carrier health
Official title: Molecular Genetics of Cystic Fibrosis
Funded at Johns Hopkins University · NIH-11331285 · Data updated 2026-11-12
Looks at how different versions of the CFTR gene change how nasal cells move salt and fluid in people with cystic fibrosis, carriers, and people without mutations.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | May 1, 1991 |
| Project end | April 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $409,375 |
| NIH project number | 5R01DK044003-36 |
| Project ID | NIH-11331285 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with cystic fibrosis, known CFTR mutation carriers, individuals with uncertain CFTR genetic findings, and healthy volunteers able to provide nasal cell samples.
✕Less likely to help
People whose respiratory problems are unrelated to CFTR or who cannot provide nasal samples are unlikely to receive direct benefit.
What this research studies
Researchers will take small nasal cell samples from volunteers and grow those cells in the lab to measure how well the CFTR protein moves chloride and fluid. They will compare people with two disease-causing CFTR mutations (people with CF), people who carry one mutation, and people with two normal copies to see how function varies. The team will test the effects of specific genetic variants that lower CFTR function and try CFTR-targeting drugs on the lab-grown nasal cells. This work aims to clarify whether carriers or people with unclear genetic results have reduced CFTR function that could explain sinus or lung symptoms.
Why it matters
Potential benefit: Could identify carriers or people with uncertain CFTR results who might benefit from CFTR-targeting treatments and improve medical counseling.
How similar studies have gone: Nasal-cell measures of CFTR function and CFTR-modulator drugs have helped predict and improve outcomes for people with CF, but applying these lab tests to carriers is a newer area.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Cutting, Garry R — Johns Hopkins University
- Study coordinator: Cutting, Garry R
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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.