Understanding how cells eliminate faulty mRNA and its implications for diseases like autism.
Official title: Nonsense-mediated mRNA decay and beyond
Funded at University of Rochester · NIH-10889929 · Data updated 2026-11-12
This study is looking at how our cells get rid of faulty messages that can cause diseases, like fragile X syndrome, which is related to autism, to help us learn more about how these problems happen and how they might be treated.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Rochester NIH-funded |
| Lab location | 1 site (Rochester, United States) |
| Project start | August 1, 2023 |
| Project end | July 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $797,851 |
| NIH project number | 5R35GM149268-02 |
| Project ID | NIH-10889929 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with fragile X syndrome or autism spectrum disorders.
✕Less likely to help
Patients with conditions unrelated to mRNA decay or those without genetic mutations affecting mRNA may not benefit from this research.
What this research studies
This research investigates a cellular process called nonsense-mediated mRNA decay (NMD), which helps cells eliminate faulty mRNA that can lead to diseases. By studying how NMD functions and its role in conditions like fragile X syndrome, which is linked to autism, the researchers aim to uncover new insights into cellular metabolism and disease mechanisms. The research involves examining the interactions of proteins and mRNAs to understand how they regulate this process, particularly in response to environmental changes. Patients may benefit from a deeper understanding of how genetic mutations affect mRNA and contribute to disorders.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for treating autism and related disorders by targeting the underlying molecular mechanisms.
How similar studies have gone: Previous research has shown promising results in understanding mRNA decay mechanisms, particularly in relation to genetic disorders, indicating potential for success in this area.
Where this research is happening
-
University of Rochester
Rochester, United States Active
Researchers
- Principal investigator: Maquat, Lynne E — University of Rochester
- Study coordinator: Maquat, Lynne 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.