A domestic research team has developed a technology that identifies high‑risk groups for Alzheimer’s disease by analyzing genetic information in the blood. It is expected to help reduce the burden of existing diagnoses, which have relied on expensive imaging tests or invasive cerebrospinal fluid examinations that cause significant pain (invasive: a procedure in which medical devices penetrate the skin or directly enter the body to collect fluids or tissues or to check conditions), and to enable earlier administration of antibody therapies.

Alzheimer’s disease is a degenerative brain disorder in which so‑called “protein waste,” such as amyloid‑beta and abnormal tau proteins, gradually accumulates in the brain and destroys brain cells, starting as early as up to 20 years before clear symptoms such as memory decline appear. As antibody therapies such as Leqembi, which target these brain pathological changes, have recently been introduced one after another, “early diagnosis” to detect the disease before significant brain damage occurs has emerged as a key challenge for the medical community.

According to the medical community on the 22nd, a research team led by Professors Park Young Ho and Pyeon Jeong Min of the Department of Neurology at Seoul National University Bundang Hospital has devised a method to assess Alzheimer’s disease risk by jointly analyzing genome (DNA) and transcriptome (RNA) information obtained from blood tests.

The genome reflects genetic risks present from birth, while the transcriptome shows which genes are currently active in the body and to what extent. The research team combined these two types of information to calculate individual risk levels with greater precision.

Previously, positron emission tomography (PET), which has been mainly used for diagnosis, has the major drawback of costing several million KRW, while cerebrospinal fluid (CSF) tests involve physical pain because a needle must be inserted into the spinal area of the lower back to collect samples.

The team analyzed blood genome and transcriptome test results from a total of 486 participants, including 313 participants in the U.S. Alzheimer’s Disease Neuroimaging Initiative (ADNI) and 173 research participants at Seoul National University Bundang Hospital. As a result, among the group with high risk scores in both indicators, the proportion of actual Alzheimer’s patients reached 80% based on the Seoul National University Bundang Hospital data. The team explained that the accuracy of identifying actual patients improved compared with using only one of the genome or transcriptome indicators.

This study is noteworthy in that it expands the potential use of blood‑test‑based screening technology for Alzheimer’s disease. Because blood can be drawn relatively easily, as in a health checkup, and the genetic information analyzed, high‑risk groups can be selected and more rapidly linked to detailed examinations and treatment. The study was published in May in the international journal “Alzheimer’s & Dementia.”

Professor Kim Eun Ju of the Department of Neurology at Pusan National University said, “In Alzheimer’s disease, early diagnosis and active therapeutic intervention are crucial.”

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