Helping some cystic fibrosis genes make full CFTR protein by adjusting how cells read RNA
Tuning translation efficiency to overcome refractory defects in CFTR
This work tries to help people with cystic fibrosis who have premature stop mutations in CFTR by nudging the cell’s protein‑making machinery so more complete, working CFTR protein is produced.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project ID | NIH-11269176 on NIH RePORTER |
What this research studies
If you have cystic fibrosis caused by a premature stop (PTC) mutation in the CFTR gene, researchers are exploring ways to change how ribosomes read CFTR RNA so the cell can make more full‑length protein. The team found in prior lab work that reducing certain ribosomal proteins can slow translation and allow better folding of mutant CFTR, and they now extend those findings to PTC mutations like W1282X and G542X. The project uses cellular and molecular experiments to identify which ribosomal targets and conditions improve production of functional CFTR. Downstream goals include finding druggable targets or approaches that could eventually be tested in people with PTC-type CFTR mutations.
Who could benefit from this research
Good fit: Ideal candidates are people with cystic fibrosis whose genetic testing shows premature termination codons in CFTR (for example W1282X or G542X).
Not a fit: People whose CF is caused by non‑PTC CFTR variants or by mechanisms not related to translation timing are unlikely to benefit from this specific approach.
Why it matters
Potential benefit: If successful, this approach could restore some CFTR protein function for people with premature stop CFTR mutations who currently lack effective approved therapies.
How similar studies have performed: Related laboratory studies have shown promise rescuing certain CFTR defects in cells and model systems, but this translation‑tuning strategy remains largely preclinical and has not yet been proven in patients.
Where this research is happening
Atlanta, United States
- Emory University — Atlanta, United States (Active)
Researchers
- Principal investigator: Oliver, Kathryn E — Emory University
- Study coordinator: Oliver, Kathryn E
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.