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-11031540 · Data updated 2026-11-12
This study is looking at how a process in our cells helps get rid of faulty messages that can cause diseases, especially focusing on fragile X syndrome, which is related to autism, to find new ways to help treat these conditions.
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, 2024 |
| Project end | July 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $61,150 |
| NIH project number | 3R35GM149268-01S1 |
| Project ID | NIH-11031540 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 not diagnosed with autism or fragile X syndrome 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. The researchers aim to understand how NMD functions not only in removing defective mRNA but also in regulating cellular metabolism and responses to environmental changes. They are particularly focused on its role in fragile X syndrome, a genetic condition linked to autism, and how certain proteins interact with mRNA to prevent disease. By exploring these mechanisms, the research seeks to uncover potential therapeutic targets for conditions like autism and other related disorders.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for autism and related intellectual disabilities by targeting the underlying cellular 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.