NeuRA Magazine #28

GLOBAL COLLABORATION DRIVES NEW BLOOD TEST TO PREDICT GENETIC ALZHEIMER’S DISEASE

As part of the Dominantly Inherited Alzheimer Network (DIAN) NeuRA has collaborated on a publication in Nature Medicine, that details evidence for a blood test that can predict familial Alzheimer’s 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 based at 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 the 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 in 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 presymptomatic 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.

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LEAD!- Leveraging Evidence into Action on Dementia

Currently, there is no effective treatment for dementia, highlighting the urgent need to preventing more cases through evidence-based strategies for risk reduction. As there is an overlap between the risk factors for dementia and other preventable non-communicable diseases including stroke, diabetes, and heart disease, it is important to build upon proven risk-reduction strategies. What is LEAD? LEAD! is a project funded by the NHMRC Boosting Dementia Research Grant led by Professor Kaarin Anstey. It involves an international collaboration between leading academics, clinicians, consumers, and community members. Organisations involved include the Department of Health, WHO, Dementia Australia, Alzheimer’s Disease International, Diabetes Australia, and Heart Foundation. The project aims to translate dementia research and implement evidence-based strategies for dementia risk reduction to individuals, communities, and healthcare centres. Three workstreams The project has three concurrent workstreams over five years: Development, Implementation, and Evaluation and adoption. The Development stream, led by Professor Kaarin Anstey and Associate Professor Peters, focuses on building a new tool for predicting dementia and other non-communicable diseases including stroke, diabetes or myocardial infarction. The tool will be available to the public, researchers and clinicians. It will save clinical assessment time, accurately predict multiple outcomes and will be more acceptable in comparison to using individual tools for each disease outcome. The Implementation stream led by Professor Nicola Lautenschalger’s team at the University of Melbourne, will develop strategies to support the implementation of dementia risk reduction evidence by engaging with consumers, clinicians, policy makers, and the public. The stream will develop strategies for incorporating the new risk assessment tool into various technological platforms (e.g., websites or apps). The Evaluation and adoption stream, led by Professor Anstey and in collaboration with Professor Louisa Jorm and Dr Heidi Welberry at UNSW, focuses on measuring trajectories of Australian’s national risk factor profiles for multiple chronic diseases. Collaboration with key stakeholders including the WHO will help build an evaluation framework and methodology for implementing evidence on dementia risk reduction based on WHO guidelines at national level and in the global context.
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