Investigating genetic causes of craniofacial dystonias
Genetic Variants in Craniofacial Dystonias
This study is looking at the genetic causes of craniofacial dystonias, like blepharospasm and oromandibular dystonia, to help find better treatments for people who experience these uncomfortable muscle contractions in their eyes and jaw.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11092796 on NIH RePORTER |
What this research studies
This research focuses on understanding craniofacial dystonias, such as blepharospasm and oromandibular dystonia, which cause abnormal muscle contractions affecting the eyes and jaw. By analyzing genetic variants through whole exome sequencing and genome-wide association studies, the researchers aim to identify both rare and common genetic factors contributing to these conditions. The study will also explore how these genetic factors influence brain connectivity and function using advanced cellular models. Ultimately, the goal is to uncover new insights that could lead to improved treatment options for patients suffering from these debilitating disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with craniofacial dystonias such as blepharospasm or oromandibular dystonia.
Not a fit: Patients with craniofacial conditions not related to dystonia may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatment strategies for patients with craniofacial dystonias.
How similar studies have performed: Previous research has shown promise in identifying genetic factors in other forms of dystonia, suggesting that this approach may yield valuable insights.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Sharma, Nutan — Massachusetts General Hospital
- Study coordinator: Sharma, Nutan
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 below.