Understanding Laryngeal Dystonia Through Brain Imaging and Genetics
Official title: Imaging genetics of laryngeal dystonia
Funded at Massachusetts Eye and Ear Infirmary · NIH-11140438 · Data updated 2026-11-12
This research looks for unique brain patterns and genetic clues to help doctors better understand and diagnose laryngeal dystonia, a condition affecting speech.
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 | 2025 |
| Award (this year) | $594,364 |
| NIH project number | 5R01DC011805-15 |
| Project ID | NIH-11140438 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with laryngeal dystonia, those at risk for the condition, or those experiencing related voice disorders like tremor or muscle tension dysphonia might be ideal candidates for future studies stemming from this research.
✕Less likely to help
Patients whose condition is not related to laryngeal dystonia or similar voice disorders would likely not directly benefit from this specific research.
What this research studies
Laryngeal dystonia, also known as spasmodic dysphonia, causes involuntary spasms in the voice box muscles, making speech difficult. Currently, it's hard to diagnose accurately and early because we lack clear biological signs. This project uses advanced brain imaging and genetic information, combined with machine learning, to find specific brain patterns and genetic factors linked to different types of laryngeal dystonia. The goal is to develop better ways to tell different forms of the condition apart, predict who might develop it early, and confirm the genes involved. This could lead to more accurate and timely diagnoses, improving quality of life for those affected.
Why it matters
Potential benefit: If successful, this work could lead to more accurate and earlier diagnosis of laryngeal dystonia, allowing for more timely and effective treatment.
How similar studies have gone: This research uses an innovative, cross-disciplinary approach, building on preliminary data, to address a challenging diagnostic problem.
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.
-
Role of THAP1 in brain cell support cells shaping brain development
Aims to understand how the THAP1 protein in oligodendrocyte lineage cells helps shape the brain’s environment and myelination during development, which may relate to a movement disorder called DYT6 dystonia.
-
Leukocyte RNA biomarkers to help diagnose and monitor dystonia
A small study will look for RNA signatures in blood that could help diagnose and track dystonia in people who have the condition.
-
How a dystonia-linked protein affects brain support cells and myelin
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.
-
Intrathecal baclofen for children with dystonia due to brain injury
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.
-
DYT1 Dystonia: Mouse Models to Understand TorsinA and Brain Circuits
A researcher-led project uses mouse models to explore how a genetic change in DYT1 dystonia affects brain circuits and movement.
-
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.