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January 21, 2022

UOW academic will lead stem cell research on Friedreich's ataxia

Funding to advance therapies for a rare neurodegenerative disease

There may be no more than 300 people living with this disease throughout Australia, but many more are carrying the gene responsible for it. Friedreich's ataxia (FRDA) is a rare inherited disorder that causes degeneration of nerve tissue in the spinal cord and the brain, which then affects movement and, over time, other neuronal functions, such as speech.

Currently, there's no cure for the disorder, which is usually diagnosed between childhood and early adulthood and can significantly shorten a person's life expectancy. And that's where research comes into play.

Professor Dottori, Principal Research Fellow at Molecular Horizons and the School of Medical, Indigenous and Health Sciences (MIHS) at the ÁñÁ«ÊÓƵapp of ÁñÁ«ÊÓƵapp (UOW), and at the , has just received a US$250,000 grant from to use stem cell-based models to examine how the human sensory nervous system is developmentally impaired in FRDA.

"There are many things that we don't know about neurodegenerative disorders. But with Friedreich's ataxia, we've been lucky to discover that the cause of FRDA is due to mutations in the FXN gene, resulting in insufficient levels of the mitochondrial protein, Frataxin, in the body," Professor Dottori explained.

"My current project funded by FARA will use stem cells derived from FRDA patients to study the progressive neurodegeneration of proprioceptor sensory neurons, which are responsible for body position and movement."

Friedreich's ataxia is inherited from both parents by what's called autosomal recessive transmission. However, if the defective gene is only passed down from one parent, the person unknowingly becomes a carrier of the disease without any symptoms. So even though the disorder is classified as rare, there are many people who may be affected by it.

The FARA project also complements other research advancements led by Professor Dottori's UOW lab, which aim to understand the human sensory systems and their relation to degenerative diseases. In one of these studies, the researchers examine the use of viruses in delivering protein Frataxin to sensory neurons, which could help to counterbalance the insufficiency of Frataxin that the FRDA patients experience.

ABOUT THE RESEARCH

PI/Investigator: Mirella Dottori, PhD, ÁñÁ«ÊÓƵapp of ÁñÁ«ÊÓƵapp, Australia

Grant Title: Investigating Proprioceptor Development and Function in Friedreich’s Ataxia

Funding period: 1 March 2022 – 28 February 2024

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