Institute for Neuroscience and Muscle Research

Lab head: A/Prof Sandra Cooper
Location: Kids Research Institute, The Children's Hospital at Westmead


How much PYROXD1 is required for life?

Primary supervisor: Fran Evesson

As part of our large program in translational genomics, we have identified a new gene, PYROXD1 that causes an early–onset myopathy in children. PYROXD1 is an oxidoreductase, and is previously unstudied in the published literature. It is rare to find something utterly uncharacterised in 2016, and this gene is essential for life.  This gene introduces altered redox as a new pathway in the myopathies, with many similarities to features of neurodegenerative disorders.

We have made an inducible PYROXD1 knock out mouse, and we can use this model to acutely control PYROXD1 expression levels. We are interested in determining exactly when and how much PYROXD1 is required for normal development.

Discipline: Applied Medical Sciences, Westmead
Co-supervisors: Frances Lemckert , Sandra Cooper
Keywords: Animal Models of disease, Cell biology