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I t adds to the drive and passion she has for her own work, aimed at better understanding the different types of genetic cerebellar ataxias by charting the patterns of eye movements patients display. “I know what it’s like to be on the receiving end of a rare disease. It really is the family that becomes the expert in the condition and often the families who drive the research. Seeing that first-hand makes me more inspired to help those with other rare conditions.” Rachael is the recipient of a $296,736 Neurological Foundation Senior Research Fellowship for a three-year study into eye pattern movements in inherited cerebellar ataxias that can be used to develop treatments or monitor the effects of treatment. As yet, no treatments exist that can cure these conditions, but Rachael says gene therapy is “on the horizon” and the research has important implications for both diagnosis and rehabilitation. Cerebellar ataxia (which can have other causes such as trauma, strokes and tumours) is a neurological condition that affects patients’ motor coordination and balance and sometimes the vestibular system – our balance-sensing system in the ear which is often referred to as our sixth sense. “These organs work as little biological gyroscopes, constantly feeding our brain with information about the direction, speed and position of our head movement in space,” says Rachael. “Our brain uses that information broadly for balance, but also for controlling our eye movements so the images in our environment remain stable while we move our head. It’s something we take for granted until it’s gone.” When the system is impaired, our vision can be too. “It’s like watching a movie when the camera operator hasn’t held the camera steady and that can cause big problems,” she says. Knowing which cerebellar ataxias displayed specific patterns of eye movements would reduce the number of diagnostic possibilities so clinicians could direct their genetic investigations accordingly. Knowing which eye movement systems were affected could also enable rehabilitation specialists to customise therapy. “If we Cerebellum and balance: UNDERSTANDING OUR ‘SIXTH SENSE’ Audiologist and University of Auckland researcher Dr Rachael Taylor knows what it’s like to have family members impacted by a rare genetic disease. Although she herself doesn’t carry the faulty gene, she’s lost a loved one and knows the feeling of isolation and helplessness that comes when a condition is fatal, uncommon and poorly understood. 12 Headlines