Investigating how a specific mutation in a protein affects brain function in dystonia patients
Official title: Determining how a single-residue PKR mutation found in patients with familial dystonia causes aberrant PKR activation
Funded at Columbia University Health Sciences · NIH-10997698 · Data updated 2026-11-12
This study is looking at how a specific change in a protein called PKR might affect brain health and contribute to conditions like familial dystonia, and it invites patients to share skin samples to help researchers learn more about this connection.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | July 1, 2024 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $48,974 |
| NIH project number | 1F31NS139626-01 |
| Project ID | NIH-10997698 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with familial dystonia or those who carry the specific PKR mutation being studied.
✕Less likely to help
Patients without the familial dystonia or the specific PKR mutation may not benefit from this research.
What this research studies
This research focuses on understanding how a mutation in the Protein Kinase R (PKR) affects its activation and contributes to neurological diseases, particularly familial dystonia. By examining patient samples, the study aims to uncover the molecular mechanisms behind abnormal PKR activity, which may lead to insights into how this protein influences brain health. The approach involves analyzing the effects of a specific mutation on PKR's function and its role in neurodegenerative conditions. Patients may provide fibroblast samples to help researchers understand the mutation's impact on PKR activation.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for treating dystonia and potentially other neurodegenerative diseases.
How similar studies have gone: Previous research has shown that targeting PKR and its pathways can yield promising results in understanding and treating neurodegenerative diseases, indicating potential for success in this approach.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Gertie, Jake Anders — Columbia University Health Sciences
- Study coordinator: Gertie, Jake Anders
Related research
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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.