# Imaging genetics of spasmodic dysphonia

> **NIH NIH R01** · MASSACHUSETTS EYE AND EAR INFIRMARY · 2020 · $696,730

## Abstract

Spasmodic dysphonia (SD) is isolated focal laryngeal dystonia characterized by selective impairment of
voluntary voice control during speech production. Despite well-characterized clinical features of SD, its causes
and pathophysiology remain unclear. Consequently, the absence of objective biomarkers of SD leads to
diagnostic inaccuracies, while the lack of understanding of neural and molecular targets of SD pathophysiology
hinders the development of novel therapeutic opportunities for SD patients. Our long-term goal is to determine
the causes and pathophysiology of SD and to develop new diagnostic and treatment options for this disorder.
The objective of this application is to identify imaging and genetic biomarkers of SD development and
manifestation. Our central hypothesis is that functional and structural brain abnormalities, shaped, in part, by
underlying causative genetic factors, exhibit disorder-characteristic features, which can be used as diagnostic
and predictive SD biomarkers. Our central hypothesis has been formulated on the bases of our preliminary
data. The rationale for the proposed studies is that identification of SD neural and genetic biomarkers would
have direct clinical impact by establishing enhanced criteria for accurate differential diagnosis, screening of
potential persons at-risk, and evaluation of mechanism-based novel pharmacological and/or surgical therapies
for these patients. Using a comprehensive approach of multi-modal neuroimaging, machine learning
algorithms, and next-generation DNA sequencing, our central hypothesis will be tested by pursuing three
specific aims: (1) Identify and validate SD phenotype- and genotype-specific neural markers; (2) Establish
endophenotypic markers of SD development; and (3) Identify SD gene(s) and their association with neural
markers of SD susceptibility. This research is innovative, because it uses a cross-disciplinary approach as a
tool for discovery of the mediating neural mechanisms that bridge the gap between the DNA sequence and SD
pathophysiology. The proposed research is significant because it is expected to vertically advance and expand
the understanding of the mechanistic aspects of brain alterations, identify neural markers and discover SD
gene mutations. Ultimately, the results of these studies are expected to establish new knowledge, which will be
critical for enhancement of SD clinical management and identification of novel approaches to new treatment
options in these patients.

## Key facts

- **NIH application ID:** 9878098
- **Project number:** 5R01DC011805-10
- **Recipient organization:** MASSACHUSETTS EYE AND EAR INFIRMARY
- **Principal Investigator:** Kristina Simonyan
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $696,730
- **Award type:** 5
- **Project period:** 2012-03-19 → 2022-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9878098

## Citation

> US National Institutes of Health, RePORTER application 9878098, Imaging genetics of spasmodic dysphonia (5R01DC011805-10). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9878098. Licensed CC0.

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