About us
About us
In 2021, our team secured a competitive Medical Research Future Fund (MRFF) grant for $2,500,000 over 5 years, Professor Pete Currie from Monash University as the Chief Investigator. This funding will establish a national network of scientists, clinicians, patients and their families to study congenital muscle disease.
Congenital muscle disease
Congenital muscle diseases, incorporating dystrophies and myopathies, are a heterogeneous group of disorders characterised by severe hypotonia and muscle weakness, with symptom onset in the first year of life. About 30 people a year are diagnosed with a congenital muscular disease in Australia of which half have a genetic diagnosis.
Despite their rarity, congenital muscle disease, have one of the highest burdens of disease in Australia. For decades, treatments have remained limited and are primarily palliative aimed at maintaining mobility, respiratory and cardiac functions.
Understanding the mechanisms by which gene defects cause muscle dysfunction and disease is critical for unlocking the potential of novel personalised therapies. Scientists from Monash University, Murdoch Children’s Research Institute (MCRI) and The University of Melbourne will use human and animal research methodologies to study these diseases.
Patients with congenital muscle disease will be recruited from sites around Australia. Our clinical partners include Royal Children’s Hospital, Monash Health, Harry Perkin’s, Women and Children’s Hospital, The Sydney Children’s Hospital Network and Children’s Health Queensland. To facilitate this work, we are establishing the National Muscle Disease Bio-databank (NMDB).
Using various research models - fish, mouse and patient-derived cells - we hope to find new and better treatments to fast-track discoveries into clinical trials.
