PYROXD1 - A novel myopathy disease gene identifies a redox pathway essential for life [ 2018 - 2022 ]

Research Grant

Researchers: A/Pr Sandra Cooper (Principal investigator) ,  Dr Mark Graham ,  Prof Patrick Tam

Brief description An Australian family with a rare myopathy has led to the discovery of a new gene called PYROXD1; a gene that all cells need to survive. PYROXD1 plays a critical role in protecting cells from oxidative stress. We are using patient samples and mouse models to find out what PYROXD1 does that is vital for cell and animal life. We will test whether redox therapies developed for neurodegenerative disorders might help patients with rare neuromuscular disorders, for whom there are no treatment options.

Funding Amount $AUD 1,265,463.38

Funding Scheme Project Grants

Notes Standard Project Grant