Advanced integrative analysis of single-nuclei transcriptomes in FSHD muscle

Investigator: Giorgio Tasca PhD

Category: Research - Basic

Facioscapulohumeral muscular dystrophy (FSHD) causes muscles to weaken because a harmful gene called DUX4 becomes active when it should not. Using cutting-edge single cell technology, our team has measured gene activity in thousands of individual muscle cell nuclei from people with FSHD. These data provide a detailed map of how the disease affects each cell type within the muscle.

We are now seeking support to complete and expand this analysis. By applying advanced computational methods, we will track how cells change during disease progression, discover which genes control these changes, and find possible weak points where new treatments could intervene. The results will help identify biomarkers that can be used to monitor disease activity and test future therapies. This project builds on a strong collaborative network combining clinical, biological, and computational expertise and directly supports the mission of Friends of FSH Research to better understand disease mechanisms and accelerate research toward effective treatments.