Researchers visited by the brothers behind their breakthrough

30 October 2018

Patient stories, Research

Kids Neuroscience Centre were thrilled to recently host Shayne and Matthew Wilson, when the brothers came by to visit the researchers who identified the rare genetic cause behind their muscle disorder.

Professor Sandra Cooper, deputy head of the Centre, leads the group who were the first in the world to discover the gene PYROXD-1 and its role in muscle weakness.  Before 2016, not only were there no scientific records of PYROXD-1, but doctors had no explanation for the disease the Wilsons have been affected by since infancy.

Discovery of PYROXD1 as a novel disease gene came about from a project started by the group in 2012, and was made possible by the muscle biobank that had been established at the Centre more than twenty years ago.  With patient consent, the biobank stores muscle samples from patients with muscle diseases, ready to be accessed by researchers.

In this project, 220 families affected by undiagnosed muscle disorders agreed to have their samples accessed for genetic sequencing, with the hope of finally obtaining a diagnosis for their conditions.  In the case of the Wilson brothers, the genetic testing, conducted at the Broad Institute, identified a number of potential disease genes, which was narrowed down to one and confirmed by functional genomic testing.

Professor Cooper then contacted international collaborators with the findings, resulting in four more families from around the world receiving a diagnosis. Since then, further families have been found to have a muscle disorder caused by a mutation in the PYROXD-1 gene.

“It's hard to describe how nice it is to finally have some information being put out there for those affected,” said Shayne.

My brother and I very much appreciate the time and effort you have put into finding out more about PYROXD1, and can't thank you enough for offering us the most encouraging developments in understanding our condition to date.

After securing 5 years funding from the National Health and Medical Research Council this year, researchers at Kids Neuroscience Centre are now trying to find out what kind of enzyme PYROXD-1 encodes, and what it does in the body that no other enzyme can.  Once a pathway is established, the team will be in a position to suggest potential therapeutic targets and possible interventions.

As well as PYROXD-1, Professor Sandra Cooper’s lab have identified 5 other novel genes that cause neuromuscular disorders, and have so far provided a genetic diagnosis for 60% of families with previously undiagnosed neuromuscular disorders.

Patient stories, Research