Global collaboration drives new blood test to predict genetic Alzheimer’s disease

Neuroscience Research Australia (NeuRA), part of the Dominantly Inherited Alzheimer Network (DIAN), has collaborated on a publication in Nature Medicine released today, that details evidence for a blood test that can predict familial Alzheimer disease 16 years before clinical symptoms appear.

The DIAN study which has been running since 2008, received support funding for this phase of research from the National Institute of Ageing and the German Centre for Neurodegenerative Diseases. It involves a global network of researchers, led by Professors John Morris and Randall Bateman at Washington University, St Louis, Missouri with study sites in the USA, England, Germany and three research teams in Australia – NeuRA, The Florey Institute, and the Edith Cowen University in WA. Together, researchers have been working with the rare families who carry the inherited Alzheimer’s disease genes to identify the biomarkers for potential predictive testing in the future.

The DIAN study has allowed us to track families with the rare inherited Alzheimer’s gene,” says CEO of NeuRA, Professor Peter Schofield, who leads the Sydney site of the DIAN study.

This research has provided critical insight into the biomarkers for Alzheimer’s.

Being able to identify a particular signature in the blood is the first step in the early detection and treatment of this devastating disorder of the brain,” says Professor Schofield.

The current collaborative research study, led by Professor Mathias Jucker of German Centre for Neurodegenerative Diseases (DZNE) and the University of Tubingen Germany, has provided encouraging results that will drive the development of an early detection program for Alzheimer’s disease.

We hope that a test could become part of a routine medical check-up in the future, providing a cost-effective and efficient early warning system for the disease,” says Professor Schofield.

The NfL blood test accurately predicted when members of a family with inherited Alzheimer’s disease would begin to show symptoms,” says Professor Colin Masters AO from the Florey Institute, who leads the Melbourne site of the DIAN study.

Neurofilament light chain, or NfL, is a crucial building block of brain cells. When these cells start to die in Alzheimer’s disease, traumatic brain injury or other neurodegenerative diseases, this building block is released into the bloodstream.

The period at which NfL showed the fastest build-up was a key time when patients converted from pre-symptomatic disease into cognitive and memory decline.

NfL levels rise whenever the brain is damaged, and as Alzheimer’s disease affects 30 per cent of people over the age of 80, we hope that NfL will become part of a GP’s standard battery, like annual cholesterol testing. We would send patients off for more specific Alzheimer’s tests if the results come back showing a cause for concern,” says Professor Masters.

Next steps for the test include replicating the results in sporadic Alzheimer’s disease patients, who are older and often have other health issues,” says Professor Schofield.

Footnote:
The study, Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer’s Disease, was published in Nature Medicine, and was funded by German, American and Australian funding agencies.

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22 January 2019

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