Californian/Australian drug discovery company Genea Biocells has demonstrated and described the world’s first human stem cell-based cellular model for a muscular dystrophy that is suitable for high-throughput screening and drug development.
In research published in the latest edition of Stem Cells Translational Medicine, scientists from Genea Biocells analyzed in detail cellular and molecular aspects of facioscapulohumeral muscular dystrophy (FSHD) during myogenic development and in myotube cultures by comparing muscle cells generated from five FSHD-affected and four normal control stem cell lines. Facioscapulohumeral Dystrophy (FSHD) is an inheritable muscle disease affecting approximately 1 in 8,000 people. There is no cure or treatment strategy for patients with FSHD. This debilitating disease slowly consumes skeletal muscle, robbing people of the active, healthy, and independent years of their lives.
“Our study identifies a range of cellular pathways involved in FSHD pathology. Importantly, we have demonstrated those in the world’s first ‘disease-in-a-dish’ model of FSHD which is a highly consistent, reproducible and scalable resource that provides many advantages over invasive patient biopsies,” Genea Biocells General Manager and lead Principal Investigator of the project, Dr. Uli Schmidt said.
The findings highlight Genea Biocells’ efficient and highly scalable monolayer system to differentiate human pluripotent stem cells into skeletal muscle cells and demonstrate disease-specific phenotypes in muscle derived from both human embryonic and induced pluripotent stem cells affected with FSHD.
“We believe that disease modeling using human stem cells inherently containing disease-inducing stimuli provides us with an invaluable edge throughout the drug development process. These cells are human, physiologically relevant and enable clinically relevant assay readouts for drug screening and further functional testing,” Dr. Schmidt said.
Genea Biocells previously developed human embryonic stem cell lines carrying the genetic defect causing FSHD as well as the world’s first high yield and scalable process to differentiate those stem cells into skeletal muscle without cell sorting or genetic manipulation. Genea Biocells now conducts a drug discovery program for FSHD based on these technologies.