Using selenocysteine to fix disease-causing mutations in genes
Readthrough of disease-causing nonsense mutations by targeted selenocysteine recoding
This study is exploring a new way to fix certain genetic mutations that cause problems in making healthy proteins, which could help people with conditions like Duchenne muscular dystrophy, cystic fibrosis, and some cancers by restoring the function of those proteins.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | New York University NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10906070 on NIH RePORTER |
What this research studies
This research focuses on addressing nonsense mutations, which are a type of genetic mutation that leads to the production of non-functional proteins. By utilizing a novel approach that involves selenocysteine recoding, the researchers aim to restore the function of proteins affected by these mutations. They will develop short oligonucleotides that help the targeted mRNA interact with a specific sequence in the gene, promoting the production of functional proteins. This method could potentially provide a more effective and targeted therapy for patients with conditions like Duchenne muscular dystrophy, cystic fibrosis, and certain cancers.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Duchenne muscular dystrophy, cystic fibrosis, or specific cancers that are linked to nonsense mutations.
Not a fit: Patients without nonsense mutations or those with other types of genetic mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that restore normal protein function in patients with genetic disorders caused by nonsense mutations.
How similar studies have performed: While there have been limited successes in therapies targeting nonsense mutations, this specific approach using selenocysteine recoding is novel and has not been widely tested.
Where this research is happening
New York, United States
- New York University — New York, United States (Active)
Researchers
- Principal investigator: Regev, Oded — New York University
- Study coordinator: Regev, Oded
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.