Novel insights into cellular interaction in collagen VI muscular dystrophy

Awardee: Malte Tiburcy

Institution: University Medical Center Göttingen

Grant Amount: $46,611

Funding Period: February 1, 2025 - January 31, 2026


Summary:

Our research focusses on building healthy and diseased human muscle from pluripotent stem cells in the dish. By applying pluripotent stem cells with patient-specific mutations, we can measure the muscle function of individual patients in the lab. Collagen VI-related dystrophy is of particular interest to us because it is not a disease of muscle cells themselves. Instead, it affects the glue that connects all cells in the muscle. How the failing glue changes the cell behavior is not clear. We would like to use our models to better understand how the glue affects cellular interaction to cause muscle dysfunction. Ultimately, we aim to find new ways of preventing the muscle weakness in collagen VI dystrophy.

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Deciphering the splicing order of COL6A1-3 pre-mRNAs to improve the prognosis and treatment of collagen VI-related muscular dystrophies

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From mouse to human – Establishing novel biomarkers for APBD