Understanding how certain genetic mutations affect protein degradation in cells
Official title: Mechanisms Underlying the Pathogenesis of SEL1L-HRD1 ERAD Disease Variants
Funded at University of Virginia · NIH-11047474 · Data updated 2026-11-12
This study is looking at how a certain protein complex helps keep our cells healthy by breaking down damaged proteins, and it's for families dealing with developmental and neurological disorders to understand how genetic changes can lead to these issues and find new ways to help.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Virginia NIH-funded |
| Lab location | 1 site (Charlottesville, United States) |
| Project start | February 3, 2025 |
| Project end | December 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $654,844 |
| NIH project number | 1R01NS138119-01A1 |
| Project ID | NIH-11047474 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals under 12 years of age with developmental delays or neurological disorders linked to SEL1L or SYVN1 mutations.
✕Less likely to help
Patients without genetic mutations in SEL1L or SYVN1, or those over 12 years of age, may not benefit from this research.
What this research studies
This research investigates the role of a specific protein complex involved in degrading misfolded proteins within cells, which is crucial for maintaining cellular health. By studying genetic mutations in families with developmental and neurological disorders, the research aims to uncover how these mutations disrupt normal protein function and lead to disease. The team uses mouse models and collaborates with clinical geneticists to explore the mechanisms behind these mutations and their effects on patients. This approach may help identify potential therapeutic targets for affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients with genetic mutations causing developmental and neurological disorders.
How similar studies have gone: While the specific mutations being studied are novel, previous research on protein degradation mechanisms has shown promise in understanding similar genetic disorders.
Where this research is happening
-
University of Virginia
Charlottesville, United States Active
Researchers
- Principal investigator: Qi, Ling — University of Virginia
- Study coordinator: Qi, Ling
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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.