Latest Research News

Researchers at the Harry Perkins Institute of Medical Research and The University of Western Australia (UWA) have discovered the genetic cause of a rare muscle disease that causes muscle weakness, droopy eyelids and difficulty swallowing. 

A collaborative study published in 2016 showed that the PPA2 mutation can cause sudden and unexpected cardiac arrest, usually between 4 and 20 months of age.

Congratulations to Jevin Parmar who learned yesterday that his peer-reviewed article was accepted in the Journal of Neurology, Neurosurgery and Psychiatry.

A/Prof Gina Ravenscroft talks to Hearts and Minds CEO Paul Rayson about her research career and research program

A common genetic cause for late onset ataxia identified as part of an international collaboration, published in the prestigious New England Journal of Medicine

New technology that can detect genetic diseases previously unable to be identified is coming to Perth. It is the second of its type in Australia.

A gene found for severe recurrent muscle breakdown disease - rhabdomyolysis

Prof Nigel Laing and Gina Ravenscroft speak to Jess Strutt on ABC radio about neuromuscular genetic diseases and reproductive carrier screening

A team of Perth geneticists has helped solve an international search for the cause of a rare muscle disease, jointly leading a publication in Nature Communications describing this disease Myoglobinopathy, caused by a mutation in the myoglobin gene

Researchers made the discovery while solving the death of a four-month-old Scottish baby