Associate Professor Mirella Dottori. Photo by Trudy Simpkin.

Associate Professor Mirella Dottori receives new grant

Associate Professor Mirella Dottori has been awarded a USA National Ataxia Foundation Grant to continue her research into the neurodegenerative disease, Friedreich’s ataxia (FRDA).

“We need human diseased cells in the ‘culture dish’ to significantly accelerate the screening process of candidate therapeutic drugs for this rare but devastating disease,” said Associate Professor Dottori.

FRDA is a rare genetic neuro muscular disease which effects hundreds of Australians. Symptoms of nerve degeneration begin between the ages of 5 and 15.

The disease’s faulty gene causes low levels of a protein called Frataxin, vital for delivering iron to nerve and heart cells.

“FRDA is caused by a breakdown in communication in the nervous system. For sufferers, their cells, don’t replenish and rebuild correctly because a vital energy-producing protein called frataxin is lacking,” said Associate Professor Mirella Dottori.

Sufferers slowly lose their balance and coordination, they can develop heart problems and often diabetes.

Associate Professor Dottori’s research involves taking pluripotent stem cells from the skin cells of people with FRDA.

The skin cells are turned into nerve and heart cells which can be studied to better understand the disease.

In collaboration with Dr Christina Cortez-Jugo, University of Melbourne, they are using nanoparticles as a vechicle to deliver Frataxin to the diseased cells to see if they can reverse symptoms caused by the faulty gene and could potentially lead to a cure or treatment.

Symptoms of Friedreich’s ataxia

  • Loss of coordination in the arms and legs
  • Fatigue, energy deprivation and muscle loss
  • Vision impairment, hearing loss, and slurred speech
  • Aggressive scoliosis (curvature of the spine)
  • Diabetes mellitus (insulin-dependent, in most cases)
  • Serious heart conditions, including hypertrophic cardiomyopathy and arrhythmias

Related stories

Friedreich’s Ataxia is the focus for IHMRI neuroscientist

Media contact

Louise Negline, Communications Coordinator

t: 4221 4702

m: 0417 044 867


Top picture: Associate Professor Mirella Dottori. Photo by Trudy Simpkin.

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