Understanding how cells manage faulty genetic instructions
Mechanisms of Translational Surveillance
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA SANTA CRUZ · NIH-11095861
This work aims to understand how our cells recognize and fix errors in our genetic code that can lead to inherited diseases.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA SANTA CRUZ (nih funded) |
| Locations | 1 site (SANTA CRUZ, UNITED STATES) |
| Trial ID | NIH-11095861 on ClinicalTrials.gov |
What this research studies
Many inherited diseases happen because of a tiny mistake in our DNA called an 'early stop codon,' which tells our cells to stop making a protein too soon. Our cells have a natural way to deal with these errors, called Nonsense-Mediated mRNA Decay (NMD), but we don't fully understand how it works. This project explores the detailed steps of how cells find these mistakes and then get rid of the faulty genetic instructions. By looking closely at key cellular components like UPF1 and ribosomes, we hope to uncover the precise mechanisms involved in this important cellular cleanup process.
Who could benefit from this research
Good fit: This foundational work is relevant to patients with inherited diseases caused by genetic mutations that introduce early stop codons.
Not a fit: Patients whose conditions are not related to early stop codon mutations or mRNA decay mechanisms may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this deeper understanding of how cells handle genetic errors could open new doors for developing treatments for a wide range of inherited diseases.
How similar studies have performed: While much work has been done on this topic, the precise steps and molecular structures involved in this cellular process are still largely unclear, making this a novel and foundational approach.
Where this research is happening
SANTA CRUZ, UNITED STATES
- UNIVERSITY OF CALIFORNIA SANTA CRUZ — SANTA CRUZ, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ARRIBERE, JOSHUA — UNIVERSITY OF CALIFORNIA SANTA CRUZ
- Study coordinator: ARRIBERE, JOSHUA
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.