How pseudouridine changes on mRNA affect health and cancer
Functions of mRNA Pseudouridylation
This project looks at whether changing a tiny chemical tag on mRNA called pseudouridine changes how cells behave and contributes to cancers and other human diseases.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-11176005 on NIH RePORTER |
What this research studies
From your perspective, scientists will map exactly where enzymes called pseudouridine synthases add pseudouridine to messenger RNAs in human cells and in disease-relevant settings. They will study the enzymes' biochemical actions and how this chemical change alters RNA shape, binding partners, and stability. Experiments will combine molecular biochemistry, human cell models, and analyses tied to conditions such as mitochondrial myopathy, digestive disorders, intellectual disability, viral resistance, dyskeratosis congenita, and diverse cancers. The aim is to connect specific RNA modifications to cell dysfunction and point to possible targets for future therapies.
Who could benefit from this research
Good fit: Patients with cancers or conditions linked to pseudouridine synthase defects—such as mitochondrial myopathy, certain digestive disorders, intellectual disability, or dyskeratosis congenita—would be most relevant for future recruitment or sample donation.
Not a fit: People seeking an immediate new therapy or those with conditions unrelated to RNA modification are unlikely to benefit directly from this basic research.
Why it matters
Potential benefit: If successful, this work could reveal new molecular targets and strategies for treating cancers and other diseases caused by faulty pseudouridine modification.
How similar studies have performed: Prior laboratory studies, including recent work showing widespread co-transcriptional pseudouridylation (Martinez et al. 2022), support this research direction, but direct clinical applications remain largely untested.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Gilbert, Wendy Victoria — Yale University
- Study coordinator: Gilbert, Wendy Victoria
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.