# NIH Reporter #5K99AR081926-02

Consequence of human satellite repeat expression and immunostimulatory potential in FSHD

**Recipient:** FRED HUTCHINSON CANCER CENTER, SEATTLE, WA, UNITED STATES

**Award Amount:** $124,308.00
**Ceiling:** $124,308.00

**Awarded:** September 07, 2026

**Identifier:** 5K99AR081926-02

Research project funded by NIAMS to study the role of HSATII repeats and DUX4 in the pathology of facioscapulohumeral muscular dystrophy, aiming to understand mechanisms and develop targeted treatments.

### Description

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular dystrophy caused by mis-expression of DUX4 in skeletal muscle. DUX4 activates transcription of retrotransposons and repetitive sequences, leading to cellular toxicity via HSATII repeat transcription and RNP complex formation. This research aims to elucidate the mechanisms of HSATII RNA's role in FSHD pathogenesis, identify biomarkers, and develop targeted therapeutics.

[View original record](https://reporter.nih.gov/search/0C83gI3MXki4-tEhFD4UKQ/project-details/11412588)