Research Institution: ​Sydney IVF

Principle Investigator: ​Dr Tomas Stojanov

Type: ​Australian

Project title: “​Derivation of human embryonic stem cells to aid medical research in FSHD”

Status: Completed


Sydney IVF have derived the world’s first embryonic stem cell lines carrying the mutation which causes facio‐scapulo‐humeral muscular dystrophy (FSHD), a genetic disorder mostly affecting muscles of the upper body. Embryonic stem cells can be expanded indefinitely in the laboratory, and they are capable of generating all cell types in the human body, including the muscle cells which are affected by FSHD. These cells are an invaluable resource for scientists studying the underlying mechanisms causing the disease and exploring steps towards a cure. Accordingly, Sydney IVF have developed new methods and protocols for stem cell culture, storage and distribution that make it easier for FSHD researchers around the world to obtain and work with FSHD‐affected cell lines. Further work was performed towards a new method for the large‐scale expansion of stem cells in order to be able to supply cells in sufficient numbers for testing drug candidates down the track. Sydney IVF are also maintaining and establishing partnerships with other FSHD researchers assisting them to gain a better understanding of the cellular pathways disrupted in FSHD as a first step towards identifying potential drug targets.