Research participant Amanda Ayliffe with husband David

Genetics of Alzheimer's disease

RESEARCH STUDY

Dementia is usually thought of as a disease of ageing. However, the burden of young onset dementia, with symptoms occurring before age 65, has recently been identified as an important area not well supported by the health care system. Dr Bill Brooks has continued his development of information and support systems for use by families that have early onset hereditary dementias.

Spastic paraparesis, a form of lower limb paralysis, has frequently been associated with early onset Alzheimer’s disease. However, in those individuals with spastic paraparesis, the onset of dementia is significantly delayed. Dr John Kwok and Professor Peter Schofield have shown that none of the genes that are known to cause spastic paraparesis are associated with this variant presentation of Alzheimer’s disease. They are now using genetic linkage approaches to attempt to identify these modifier genes, which may provide therapeutic targets for the treatment of Alzheimer’s disease.

Professor Schofield has continued his support for the genetic analysis of two epidemiological studies led by campus colleagues, Professors Perminder Sachdev and Henry Brodaty. The Memory and Ageing study has recruited 1,000 individuals from the south-eastern region of Sydney while the Older Australian Twin Study is recruiting twins and their siblings from the eastern seaboard.

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FEEL THE BUZZ IN THE AIR? US TOO.

During three decades on Australian television, two simple words brought us to attention.

‘Hello daaaahling’. Outrageous, flamboyant, iconic – Jeanne Little captivated Australians everywhere with her unique style, cockatoo shrill voice and fashion sense. "Mum wasn't just the life of the party, she was the party.” Katie Little, Jeanne’s daughter remembers. This icon of Australian television brought a smile into Australian homes. Tragically, today Jeanne can't walk, talk or feed herself. She doesn't recognise anyone, with a random sound or laugh the only glimpse of who she truly is. Jeanne Little has Alzheimer's disease. The 1,000 Brains Study NeuRA is very excited to announce the 1,000 Brains Study, a ground-breaking research project to identify the elements in our brains that cause life-changing neurodegenerative diseases like Alzheimer’s, Parkinson’s and other dementias. This study will focus on the key unresolved question: why do some of us develop devastating neurodegenerative diseases, while others retain good brain health? The study will compare the genomes of people who have reached old age with healthy brains against the genomes of those who have died from neurodegenerative diseases, with post mortem examination of brain tissue taking place at NeuRA’s Sydney Brain Bank. More information on the study can be found here. Will you please support dementia research and the 1,000 Brains Study and help drive the future of genetics research in Australia? https://youtu.be/q7fTZIisgAY
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