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Telethon support for spinal muscular atrophy research

29/03/23 - Molecular genetics research to develop more effective treatments for the neurodegenerative disorder spinal muscular atrophy (SMA) has received funding from the Channel 7 Telethon Trust, announced at a recent beneficiary event.

Spinal muscular atrophy is an inherited, progressive and life-limiting rare disease. Debilitating and often fatal, it affects approximately one in 10,000 individuals and is the leading genetic cause of death among infants.

One in 35 people unknowingly carry the faulty SMA-causing gene.

“The progressive loss of spinal cord motor neurons causes SMA babies to have difficulties in controlling muscle movement and tragically, difficulties in coughing and breathing,” said Dr Dunhui (Oliver) Li, a postdoctoral research scientist in the Motor Neurone Disease Genetics and Therapeutics group led by Professor Anthony Akkari at Western Australia’s Perron Institute.

“Current drugs to treat SMA patients have shown some efficacy, but limitations exist and there is an urgent need to develop novel and alternative treatments to improve the quality of life of those patients.

“The project attracting funding of $145,773.90 aims to reprogram star-shaped spinal cord cells called astrocytes to motor neurons using a gene modulating approach involving antisense oligonucleotides, a novel regenerative therapeutic approach.

“We believe data from this project has the potential to lead to the development of targeted, life-changing therapeutics for SMA patients,” Dr Li said.

“The grant from the Channel 7 Telethon Trust is greatly appreciated, enabling us to take this research forward.”

Dr Dunhui (Oliver) Li (photo credit: Kelly Pilgrim-Byrne for Perron Institute).

Media contact:

Tennille Kroemer, Communications Manager, Perron Institute

M: 0426 044 223



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