Imaging genetics of laryngeal dystonia
Funded at Massachusetts Eye and Ear Infirmary · NIH-11370146 · Data updated 2026-11-12
A research project aims to find brain and genetic signs that help detect and differentiate laryngeal dystonia earlier and more accurately.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts Eye and Ear Infirmary NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | March 19, 2012 |
| Project end | July 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $594,364 |
| NIH project number | 5R01DC011805-16 |
| Project ID | NIH-11370146 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates include individuals with suspected or diagnosed laryngeal dystonia, people with family history at risk, and those with related voice disorders under investigation.
✕Less likely to help
People without laryngeal dystonia or related conditions are unlikely to benefit directly.
What this research studies
This project combines brain imaging, genetics, and advanced computer analysis to uncover neural and genetic markers of laryngeal dystonia. It looks at how different forms and related conditions may show distinct brain patterns, with the hope of predicting development in at-risk people. By validating gene mutations linked to LD, the study seeks clearer, earlier clues that could lead to better diagnosis and treatment planning.
Why it matters
Potential benefit: If successful, patients could receive faster, more accurate diagnoses and more personalized treatment options.
How similar studies have gone: Prior work suggests imaging and genetic data can differentiate LD forms, but this project aims for stronger, clinically actionable biomarkers.
Where this research is happening
-
Massachusetts Eye and Ear Infirmary
Boston, United States Active
Researchers
- Principal investigator: Simonyan, Kristina — Massachusetts Eye and Ear Infirmary
- Study coordinator: Simonyan, Kristina
Related research
Other NIH-funded projects on the same topics.
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Role of THAP1 in brain cell support cells shaping brain development
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A small study will look for RNA signatures in blood that could help diagnose and track dystonia in people who have the condition.
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This project looks at how the THAP1 protein linked to DYT6 dystonia changes the behavior of brain support cells and the surrounding matrix, which could affect myelination in adults with DYT-THAP1.
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A physician-led study at Baylor College of Medicine will help determine how ITB therapy affects daily life, comfort, and mobility for children with dystonia and related condition after brain injury.
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A researcher-led project uses mouse models to explore how a genetic change in DYT1 dystonia affects brain circuits and movement.
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Dystonia-specific brain signaling pattern in cerebellum
Aims to identify a characteristic pattern of nerve cell activity in the cerebellum that is linked to dystonia, with studies in mice and potential implications for people with the condition.
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.