Understanding how nonsense mutations affect Cystic Fibrosis and exploring new treatments
Investigating the role of NMD in Nonsense Mutation Biology and Therapeutic Strategies
This study is looking at how certain gene changes in Cystic Fibrosis affect treatment options, and it's creating special mouse models to find new ways to help people with these specific gene changes.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Case Western Reserve University NIH-funded |
| Lab location | 1 site (Cleveland, United States) |
| Project ID | NIH-10913483 on NIH RePORTER |
What this research studies
This research focuses on the impact of nonsense mutations in the CFTR gene, which causes Cystic Fibrosis (CF). It aims to investigate how the cellular process known as nonsense-mediated decay (NMD) affects the presence of these mutations and their potential treatments. By developing novel mouse models that mimic specific nonsense mutations, the research will measure how effectively NMD operates and explore pharmacological strategies to correct these mutations. This could lead to new therapeutic options for patients with CF who have nonsense mutations.
Who could benefit from this research
Good fit: Ideal candidates for this research are patients with Cystic Fibrosis who have nonsense mutations in the CFTR gene.
Not a fit: Patients with Cystic Fibrosis who do not have nonsense mutations in the CFTR gene may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients with Cystic Fibrosis caused by nonsense mutations, improving their health outcomes.
How similar studies have performed: While the approach of studying nonsense mutations is established, the specific focus on NMD in Cystic Fibrosis is a novel area of investigation.
Where this research is happening
Cleveland, United States
- Case Western Reserve University — Cleveland, United States (Active)
Researchers
- Principal investigator: Michicich, Margaret — Case Western Reserve University
- Study coordinator: Michicich, Margaret
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.