Motor Neurone Disease

Motor neurone diseases (MND) are a group of progressive neurological disorders. The conditions attack the motor neurones (nerve cells) which control skeletal muscle activity such as walking, breathing, speaking and swallowing. The disorders are progressive. As muscles are unable to receive signals, muscle weakness and wasting becomes widespread. The MND group of diseases includes amyotrophic lateral sclerosis (ALS), progressive bulbar palsy, primary lateral sclerosis, progressive muscular atrophy, spinal muscular atrophy, Kennedy’s disease, and post-polio syndrome.

MND signs and symptoms include; muscle cramps and twitches, weakness of hands or legs, difficulty speaking or swallowing

Life expectancy after the diagnosis is made, is usually between 2 to 5 years and is shorter when the throat muscles are affected first. It is a rare condition with an estimated 2,000 Australians living with the disease.

Research Focus

The Motor Neurone Disease Genetics and Therapeutics Research Group, led by Professor Anthony Akkari, aims to identify genetic mechanisms and mutations in neurological conditions, particularly motor neurone diseases. Our focus is to translate this research into developing personalised treatments. We work closely with Professors Steve Wilton and Sue Fletcher towards this goal.

Through Professor Akkari’s background in pharmacogenetics, Perron Institute’s MND research approach is distinct and unique to other efforts around the world. Our team have successfully created a comprehensive pipeline of targeted therapeutics for MND, we expect shortly we will have phase one ready targeted MND therapy for a small group of patients with SOD1 mutations and sporadic ALS.

Researchers

Grants

Wilton, Akkari, Flynn, Pitout & Fletcher. FightMND Drug Development Grant for "Pre-clinical development of a SOD1 genetic therapy in sporadic ALS: enabling investigational new drug submission" (2021-2023)
Turner, Flynn, Akkari, Pitout, Barton & Wilton. MND Research Institute of Australia, Innovator Grant Scheme for "Development of a novel splice-switching molecular therapy for MND" (2020-2021)
Anderton, Meloni, Akkari & Chiba-Falek. Raine Medical Research Foundation Priming Grant for "Investigating a novel class of peptide as a therapeutic for neurodegenerative disorders" (2020-2021)
Kôks, Aoun & Akkari. MSWA for “Trajectories of Outcomes in Neurological Conditions study – TONiC in WA” (2019-2022)
MSWA Genomic Medicine Grant
Akkari, Flynn, Pitout. Giumelli Foundation Grant for "Establishing an MND cell model laboratory" (2019-2021)