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Biomarkers in Precision Medicine

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: 20 November 2025 | Viewed by 1058

Special Issue Editor

Special Issue Information

Dear Colleagues,

Neurodegenerative diseases are progressive disorders characterized by the gradual loss of functional neurons in central and peripheral nervous systems, often leading to the demise of affected subjects. These conditions, including Alzheimer’s disease (AD), Parkinson’s disease (PD), and amyotrophic lateral sclerosis (ALS), typically manifest as cognitive decline, motor dysfunction, or both, severely impacting patients' quality of life. The underlying mechanisms are complex and multifactorial, involving protein misfolding, the accumulation of toxic aggregates, oxidative stress, mitochondrial dysfunction, and neuroinflammation. The lack of effective early diagnostic tools and disease-modifying treatments underscores the urgency of identifying reliable biomarkers to enhance our understanding, monitoring, and treatment of these devastating conditions. Biomarkers such as α-synuclein (α-syn) seeds, amyloid-beta (Aβ), tau proteins, and neurofilament light chain (NfL) have demonstrated potential in identifying early disease stages, tracking disease progression, and predicting outcomes in conditions like AD and PD. Advanced techniques, including neuroimaging, cerebrospinal fluid analysis, and blood-based assays, are being developed to enhance biomarker accuracy and accessibility. These innovations not only enable early and precise diagnosis but also facilitate personalized treatment strategies by identifying specific pathological pathways. The integration of biomarker discovery with artificial intelligence and multi-omics approaches holds promise for revolutionizing the management of neurodegenerative disorders. 

The aim of this Special Issue is to discuss new promising biomarkers and novel techniques and approaches for biomarker identification and validation, which can support clinical practice regarding human neurodegenerative disorders.

Dr. Zhidong Zhou
Guest Editor

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Keywords

  • biomarkers
  • precision medicine
  • novel techniques
  • artificial intelligence

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Published Papers (1 paper)

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Research

16 pages, 2462 KiB  
Article
Performance of Plasma Phosphorylated tau-217 in Patients on the Continuum of Alzheimer’s Disease
by Farida Dakterzada, Ricard López-Ortega, Alba Vilella-Figuerola, Nathalia Montero-Castilla, Iolanda Riba-Llena, Maria Ruiz-Julián, Alfonso Arias, Jordi Sarto, Nuria Tahan and Gerard Piñol-Ripoll
Int. J. Mol. Sci. 2025, 26(14), 6771; https://doi.org/10.3390/ijms26146771 - 15 Jul 2025
Viewed by 713
Abstract
Recent studies have demonstrated the high analytical and diagnostic performance of plasma p-tau217 using well-defined cohorts. We aimed to assess the analytical, diagnostic, and prognostic utility of plasma p-tau217 as a routine biomarker in symptomatic patients attending our memory clinic. We also sought [...] Read more.
Recent studies have demonstrated the high analytical and diagnostic performance of plasma p-tau217 using well-defined cohorts. We aimed to assess the analytical, diagnostic, and prognostic utility of plasma p-tau217 as a routine biomarker in symptomatic patients attending our memory clinic. We also sought to identify optimal cutoff points that align with cerebrospinal fluid (CSF) amyloid beta (Aβ) status. A total of 276 cognitively impaired patients were included, with 81 mild cognitive impairment (MCI) patients followed for a mean of 56 (±15.8) months to evaluate progression to Alzheimer’s disease (AD). CSF and blood biomarkers of AD were quantified using the Lumipulse G platform. Plasma p-tau217 levels showed strong correlations with CSF Aβ42/Aβ40 (r = −0.707), p-tau181/Aβ42 (r = 0.842), and p-tau181 (r = 0.728). Plasma p-tau217 levels were significantly higher in the A + T + group than in A − T +/− (p < 0.001) and outperformed other plasma markers in detecting CSF Aβ pathology (AUC 0.924).Additionally, p-tau217 moderated cognitive changes over time as measured by the Mini-mental state examination (MMSE) (F(2, 70) = 13.995, p < 0.001) and outperformed other plasma biomarkers in predicting progression from MCI to AD (AUC 0.876). Using a dual cutoff strategy, 72% of patients were classified with 94.9% concordance with CSF Aβ status. Plasma p-tau217 shows strong potential as a non-invasive, cost-effective diagnostic and prognostic tool in clinical settings. Full article
(This article belongs to the Special Issue Biomarkers in Precision Medicine)
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