Investigation of DUX4 activity during development of hESC-derived skeletal muscle

Investigator: Genea Biocells

Category: Research - Translational

Scientists at Genea Biocells have developed a novel method of maturing stem cells into muscle cells, to provide a tool to advance research in FSHD and facilitate drug development. The lack of adequate in vitro systems for high throughput screening (HTS) of drugs to treat FSHD has slowed the development of treatments for people affected by the disease. The stem cells used in this project are called ‘pluripotent’, which means they can be matured to form any cell type of the human body, including muscle, the cell type mostly affected by FSHD. They can be indefinitely expanded in the laboratory and thus, can be used to supply a continuing source of cells for research around the world. Four pluripotent stem cell lines carrying the genetic (DNA) deletions associated with FSHD have been generated at Genea, and scientists have now an inexhaustible supply of FSHD-affected muscle without the need for patient biopsies.

This Friends of FSH Research supported project further validates this new stem cell system and examines cellular properties as well as genes which are aberrantly regulated in FSH muscle. Studies then focus on reliably detecting and measuring these differences between healthy and FSH muscle cells as a means to screen large numbers of pharmaceutical drug candidates for their ability to mitigate FSH symptoms.

Related Material

See: Final Report