Associate Professor Mirella Dottori’s research in disease modelling through stem cells has been largely dedicated to a rare genetically inherited disease known as Friedreich’s ataxia (FA).
As part of Rare Diseases Day Australia, on February 28th, IHMRI is highlighting the important work being carried about by Associate Professor Dottori and her team here in the Illawarra. The theme for this year’s Rare Disease Day is Research.
Formerly at the University of Melbourne, Associate Professor Dottori moved to Wollongong last year, and is now based at IHMRI.
At IHMRI she continues to build on her expertise in generating nerves found within the brain and surrounding spinal cord to study and how they interact to form functional circuitry systems.
Friedreich’s ataxia is a neuro muscular disease which effects hundreds of Australians.
Symptoms usually begin between the ages of 5 and 15.
It is a genetic disease with no known treatment that causes slow nerve degeneration and early death.
The disease’s faulty gene causes low levels of a protein called Frataxin vital for delivering iron to nerve and heart cells.
Sufferers slowly lose their balance and coordination, can develop heart problems and often diabetes.
Associate Professor Dottori’s research involves taking pluripotent stem cells from the skin cells of FA sufferers.
The skin cells are turned into nerve and heart cells which can be studied to better understand the disease.
They are tested with existing or new candidate drugs to see if they can reverse symptoms caused by the faulty gene and could potentially lead to a cure or treatment.
“We need human diseased cells in the ‘culture dish’ to significantly accelerate the screening process of candidate therapeutic drugs, and this is how my research greatly contributes,” says Associate Professor Dottori.
“Both my heart and my mind goes into my research, especially when I meet sufferers of Friedreich’s Ataxia. My passion is that we will find an effective treatment for this disease sooner rather than later,” she said.
Associate Professor Dottori has established an extensive network of national and international collaborators in neurodegenerative diseases like FA, Parkinson’s disease and hearing loss.
Nick Rousch – Wollongong FA sufferer
Forty seven year old Nick Rousch was diagnosed with FA when he was 18.
It was a devastating diagnoses for former A-grade tennis player and representative soccer player and cross-country runner.
Mr Rousch is now confined to a wheelchair but keeps himself fit by going to the gym five days a week.
His father, Peter Rousch, is the founding organiser of fara.org.au.
Louise Negline, Communications Coordinator
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