Showing posts with label Friedreich ataxia. Show all posts
Showing posts with label Friedreich ataxia. Show all posts

18 Mar 2022

Funding to break the research participation barrier in spinocerebellar ataxia

Study participants can complete web-based assessments from home
in Dr Ian Harding's research on spinocerebellar ataxias.
Congratulations to Dr Ian Harding, Department of Neuroscience, for obtaining a Young Investigator grant of USD $50,000 from the National Ataxia Foundation for research on spinocerebellar ataxias.

Spinocerebellar ataxias (SCA) are inherited progressive and life-shortening neurological disorders. People with SCAs experience a wide range of different symptoms, including difficulties with movement coordination, speech, mental function skills like thinking, and managing their emotions. Currently, no treatments exist that stop the disease progression.

28 Feb 2022

Brain imaging reveals insights into movement disorder: Rare Disease Day feature

L-R: Patient advocate Marcus and CCS researcher Dr Ian Harding
talk about the experience of living with the illness and the
challenges of research into the disease. Video (2:09 mins)

Part of our special series for Rare Disease Day featuring patient advocates and CCS researchers 

Friedreich ataxia (FA) is a debilitating genetic disorder that causes progressive damage to the nervous system and heart. Defined by problems with gait, balance and motor coordination, speech and swallowing, its symptoms generally start in childhood or adolescence and progressively worsen, causing increasing difficulty with basic daily activities and self-care, and ultimately leading to premature death 20 to 30 years after first symptoms. It affects 2-4 people per 100 000.

Dr Ian Harding and his team in the CCS’s Department of Neuroscience have recently made some exciting advances in knowledge using a variety of magnetic resonance imaging (MRI) and positron emission tomography (PET) brain imaging techniques.

12 Nov 2021

Building a detailed picture of Friedreich Ataxia through global collaboration

The Monash led ENIGMA-Ataxia working group is collecting
and analysing data worldwide on Friedreich Ataxia

Friedreich Ataxia (FRDA) is a rare inherited disease affecting between 500-800 Australians. It is a neurological disorder causing damage in areas of the nervous system responsible for movement and sensation. It shows initially with abnormal, uncoordinated movements, and over time as the disease progresses, a whole constellation of problems emerges. 

Early diagnosis can help with managing the symptoms, allowing improved quality of life for people with the illness, but there is no cure.

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