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Big data study leads to identification of blood biomarkers for Alzheimer’s

EMIF’s datasets helped researchers identify plasma proteins that changed in the presence of traditional Alzheimer’s markers, opening new avenues of research

Image by BGStock72 via Shutterstock
Image by BGStock72 via Shutterstock


The tools used to diagnose Alzheimer’s disease are expensive, invasive, and often, not readily available. They include brain imaging scans and cerebrospinal fluid samples obtained via lumbar puncture. There is an urgent need for new non-invasive biomarkers that can help diagnose the disease, particularly in the early stages when interventions have the best chance of success.

The IMI-funded EMIF project created an IT tool that allows researchers to browse a catalogue of datasets that can be used to help answer research questions. One of the large-scale studies carried out by the project to test the platform’s functionality involved connecting European datasets from existing Alzheimer’s cohorts and patients’ electronic health records. Data from these cohorts were recently used by a team of researchers who found that certain blood proteins can indicate the presence of Alzheimer’s pathology i.e. amyloid plaque, tau tangles and neurodegeneration, as reliably as a clinical diagnosis.

The EMIF-AD MBD study, which concluded in 2018, brought together hundreds of samples from three groups of people: cognitively normal controls, those with mild cognitive impairment and those with confirmed Alzheimer’s. The subjects’ amyloid-beta status was included in the data, as were cognitive test results and at least two of the following: plasma, DNA, magnetic resonance imaging (MRI) or cerebrospinal fluid (CSF). The study, which concluded that the presence of amyloid and APOE ε4 status play central roles in the disease, was intended to help other researchers in the hunt for diagnostic and prognostic biomarkers by allowing any researcher to access them via the EMIF-AD Catalogue.

In July 2020 a team led by the University of Oxford reported that they had analysed the samples and data from the EMIF-AD MBD cohort and were able to show that certain blood proteins can predict the presence of Alzheimer’s pathology without the need for invasive lumbar punctures, accurately discriminating between people with mild cognitive impairment and people with AD.

The study, published in the journal Alzheimer's and Dementia, compared the blood plasma of 600 people with mild cognitive impairment or Alzheimer’s with over 370 of their unaffected peers. Using a technology called SOMAscan, which can measure over 4,000 different blood proteins in a single plasma sample, the researchers identified groups of proteins that changed in correlation with traditional markers of amyloid plaque, tau tangles and neurodegeneration. These proteins point to potential targets for further studies on the molecular basis of Alzheimer’s.



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