Rare Diseases

New treatments to fight a rare disorder wreaking havoc in isolated indigenous communities

Zebrafish may be the key to model and test new treatments to fight a rare disorder wreaking havoc in isolated Indigenous communi

Macquarie University researchers have developed the first zebrafish model of the neurodegenerative Machado-Joseph Disease – and have used this model to test drugs that could potentially be used to treat the disease, which disproportionately affects Indigenous Australians.

Machado-Joseph Disease, or spinocerebellar ataxia-3, is a hereditary disease caused by a gene mutation, which leads to a progressive loss of muscle control and movement. Most people living with MJD are wheelchair bound and need constant support within 15 years of symptoms first emerging.

Researchers gave the zebrafish the human disease-causing gene, creating the first transgenic zebrafish model of MJD, allowing them to compare the movement, pathology and lifespan of fish carrying the healthy version of the human gene to those with the disease-causing version.

“Zebrafish are small and transparent, allowing us…