Analyzing how genetic variations affect protein function in diseases
Official title: Thermal proteome profiling for analysis of protein sequence variants in human genetic disease
Funded at Indiana University Indianapolis · NIH-11010000 · Data updated 2026-11-12
This study is looking at how changes in our genes can affect proteins in the body, especially for people with rare neurodegenerative diseases, to help us understand these conditions better and find new treatments.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Indiana University Indianapolis NIH-funded |
| Lab location | 1 site (Indianapolis, United States) |
| Project start | February 15, 2021 |
| Project end | January 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $347,749 |
| NIH project number | 5R01NS121550-05 |
| Project ID | NIH-11010000 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates include individuals with known genetic mutations associated with neurodegenerative diseases such as Ataxia Oculomotor Apraxia 2, Amyotrophic Lateral Sclerosis 4, and PontoCerebellar Hypoplasia.
✕Less likely to help
Patients without genetic mutations or those with unrelated conditions may not receive any benefit from this research.
What this research studies
This research investigates the impact of genetic variations on protein function using a technique called thermal proteome profiling (TPP). By measuring how missense mutations affect protein stability and interactions, the study aims to provide insights into the molecular changes associated with various human genetic diseases. The research will focus on specific proteins linked to rare neurodegenerative conditions, optimizing data analysis methods to enhance understanding of these mutations. Patients may benefit from a better understanding of their genetic conditions and potential targeted therapies.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic and therapeutic strategies for patients with genetic diseases.
How similar studies have gone: Previous research has shown promise in using thermal proteome profiling to understand protein function, indicating potential for success in this novel application.
Where this research is happening
-
Indiana University Indianapolis
Indianapolis, United States Active
Researchers
- Principal investigator: Mosley, Amber L. — Indiana University Indianapolis
- Study coordinator: Mosley, Amber L.
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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.