22 February 2021

MND genetics research in WA recognised by international experts

The work of Perron Institute and Murdoch University researchers has recently received international attention. They are uncovering genetic mechanisms that are leading towards future genetic therapies for motor neurone disease (MND).

Two peer reviewed scientific papers on this theme have been referenced in a year-in-review article recently published by Neurology Genetics, the official journal of the American Academy of Neurology. The papers cited were among 11 chosen for the journal article as deserving of highlighting for readers.

The senior author of the two papers is Professor Anthony Akkari, a neurodegenerative disease geneticist who heads the Motor Neurone Disease Genetics and Therapeutics Research team at the Perron Institute and Centre for Molecular Medicine and Innovative Therapeutics at Murdoch University.

The lead author is Julia Pytte, a PhD candidate with Professor Akkari, and this work forms the basis of her PhD due for completion this year.

The research focus of Professor Akkari’s team is on developing new approaches to identify genetic mechanisms in neurological disorders with the aim of developing new, personalised treatments, particularly for motor neurone disease.

Funding support has been provided by the Giumelli Family Foundation and the Racing for MNDi Foundation.

“Western Australia and the Perron Institute have historical connections with the mapping of MND,” and neuromuscular disease genes,” Professor Akkari said.

“In the early 1990s, researchers at the Perron Institute (then the Australian Neuromuscular Research Institute) played a significant part in discovering the first gene (SOD1) for MND, in collaboration with other researchers in the United States.

“We hope that the SOD1 genetic work will prove to be as big as the Duchenne muscular dystrophy research breakthroughs by Professors Sue Fletcher and Steve Wilton of the Centre for Molecular Medicine and Innovative Therapeutics – a Perron Institute-Murdoch University joint venture. Their work led to the development of the first treatment for Duchenne.”

Motor neurone disease, also known as amyotrophic lateral sclerosis (ALS), is a relentless disease that causes muscle wasting. Ultimately, it robs people of the ability to walk, talk, swallow and breathe.

The Perron Institute’s collaborative research seeks to identify and fill in some gaps in knowledge of key genetic drivers of complex diseases such as MND to help identify who is at risk. The aim also is to enable people suffering from such diseases to have access to better treatment.

Professor Akkari’s 28 years’ research experience in Australia and the USA includes 14 years of industry expertise in molecular genetics, pharmacogenetics and personalised medicine, providing leadership and technical expertise for the application of genetic sciences in drug development. He is also Adjunct Professor in the Department of Neurology at Duke University in Durham, North Carolina USA.