Nellie Georgiou-Karistianis

The medical profession continues to be challenged by debilitating neurodegenerative disorders. While treatments have improved in recent decades, understanding the onset and progression of conditions like Huntington’s disease, Friedreich ataxia, Parkinson’s disease, Multiple Sclerosis and dementia has remained difficult. Cognitive neuroscientist and Head of the Experimental Neuropsychology Research Unit, Professor Nellie Georgiou-Karistianis, is using state-of-the-art technology to understand the how and why of neurodegeneration, especially in rare adult onset neurological disorders.

"My current research explores linkages between brain mechanisms and the cognitive and motor signatures in neurodegenerative diseases, in particular Huntington’s disease and Friedreich ataxia", Nellie says.

Huntington’s disease and Friedreich ataxia present different physical and psychological symptoms, but offer similar challenges for researchers. Nellie is researching ways to map brain dysfunction more accurately, in an effort to improve early detection and better understand factors that influence disease progression.

"My two previous NHMRC projects have provided rich longitudinal data sets in which to map brain abnormalities in premanifest and early symptomatic Huntington’s disease (IMAGE-HD), as well as in Friedreich ataxia (IMAGE-FRDA). Both studies used state-of-the-art multi-modal resonance imaging (MRI) technology, together with the collection of clinical and neurocognitive data from large patient cohorts. Through this work we aim to accelerate the discovery of sensitive neuroimaging biomarkers that best track disease progression in both disorders, and examine how these biomarkers correlate with clinical and neurocognitive features of disease", she says. Both projects have led to numerous peer reviewed scientific publications, with on-going research still in progress.

"Diffusion tensor imaging (DTI) enables us to take a closer look at the structure of tissue property, which offers insight into brain microstructure, particularly changes in inter-regional connectivity, and enables the examination of white matter in the brain. Using functional magnetic resonance imaging (fMRI), we can determine the functional activity of targeted brain regions during task performance. Changes in functional brain activation may represent reorganisation of the brain as an important signature in how the brain may attempt to compensate for changes that occur at both the structure and microstructure levels," she says.

Nellie says “advances of this kind have allowed researchers to determine how neurological disorders alter patient’s brain structure, function and connectivity.”

"In some cases, such brain changes are observed up to 20 years prior to clinical diagnosis in individuals who are gene positive for Huntingtons disease and at a time when intervention may have a real hope of forestalling or delaying otherwise inevitable further deterioration to levels of clinical significance", Nellie says.

New up-and-coming clinical trials, run by Roche and Wave, will offer promising new opportunities for treatments currently being pushed through the clinical trial pipeline.

"In future I hope to form links with industry to determine how non-pharmacological interventions may improve brain function and functional connectivity, and how other genetic modifiers may play a role in shaping brain development", she says. "Given we have well characterised behavioural deficits in these disorders, and have identified brain signatures sensitive to disease progression, the next chapter of my research will be to investigate how non-pharmacological interventions can slow the onset of disease and improve functional outcomes in patients living with these diseases. Such interventions include physical exercise and cognitive brain training programs.”

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