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Biomarkers in Human Diseases and Emerging Diagnostic Technologies for Their...
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Biomarkers in Human Diseases and Emerging Diagnostic Technologies for Their Identification and Application

A special issue of Cells (ISSN 2073-4409).

Deadline for manuscript submissions: 28 February 2026 | Viewed by 2428

Special Issue Editors

Dr. Andrea Cruz

E-Mail Website
Guest Editor
INL—International Iberian Nanotechnology Laboratory, 4715-330 Braga, Portugal
Interests: biomarkers; disease mechanisms; inflammation; neuroinflammation; point-of-care devices; organ-on-chip; biosensors
Dr. Carla Carvalho

E-Mail Website
Guest Editor
INL—International Iberian Nanotechnology Laboratory, 4715-330 Braga, Portugal
Interests: biomarkers; infectious diseases; microfluidic devices; biosensors; bacteriophages
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Biomarkers play a crucial role in understanding human diseases by serving as measurable indicators of physiological, pathological, or therapeutic responses. They provide valuable insights into disease mechanisms, enabling early detection, accurate diagnosis, prognosis evaluation, and the monitoring of treatment efficacy. Biomarkers range from genetic and molecular markers to proteins, metabolites, and pathogens, reflecting various aspects of disease processes.

The development and implementation of precise diagnostic methods are essential for effectively detecting and quantifying biomarkers. Advanced techniques, such as molecular assays, immunoassays, next-generation sequencing, and imaging technologies, have revolutionized biomarker-based diagnostics. These methods enable personalized medicine approaches, allowing for tailored therapeutic interventions based on an individual’s biomarker profile. Additionally, combining multiple biomarkers through multiplex assays and bioinformatic tools enhances diagnostic accuracy and predictive power. Moreover, emerging technologies, such as microfluidic devices and biosensors, can add accuracy, reproducibility, and sensitivity, and enable point-of-care diagnosis, ultimately improving patient outcomes and advancing medical research.         

This Special Issue provides an open access platform for original research and review articles exploring the evolving field of biomarkers and diagnostic technologies. We invite contributions focused on biomarker identification, diagnostic and monitoring applications, validation, and their interplay with disease mechanisms. Submissions discussing the development and implementation of advanced diagnostic methods for biomarker detection, such as microfluidic devices and biosensors, are also highly encouraged. Our goal is to underscore the critical role of biomarkers in disease management and the indispensable role of diagnostic technologies in harnessing their full potential.

Dr. Andrea Cruz
Dr. Carla Carvalho
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • biomarkers
  • human diseases
  • disease mechanisms
  • biomarker validation
  • early detection
  • accurate diagnosis
  • prognosis evaluation
  • treatment monitoring
  • diagnostic technologies
  • biosensors
  • microfluidics

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Published Papers (2 papers)

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Research

15 pages, 3635 KB  
Article
The Calprotectin Fragment, CPa9-HNE, Is a Plasma Biomarker of Mild Chronic Obstructive Pulmonary Disease
by Mugdha M. Joglekar, Jannie M. B. Sand, Theo Borghuis, Diana J. Leeming, Morten Karsdal, Frank Klont, Russell P. Bowler, Barbro N. Melgert, Janette K. Burgess and Simon D. Pouwels
Cells 2025, 14(15), 1155; https://doi.org/10.3390/cells14151155 - 26 Jul 2025
Viewed by 437
Abstract
Chronic obstructive pulmonary disease (COPD) is a chronic inflammatory disease predominantly of the small airways and parenchyma. COPD lungs exhibit an influx of circulating innate immune cells, which, when isolated, display impaired functions, including imbalanced protease secretion. In addition to immune cells, the [...] Read more.
Chronic obstructive pulmonary disease (COPD) is a chronic inflammatory disease predominantly of the small airways and parenchyma. COPD lungs exhibit an influx of circulating innate immune cells, which, when isolated, display impaired functions, including imbalanced protease secretion. In addition to immune cells, the extracellular matrix (ECM) plays a crucial role in COPD pathology. Remodeling of the ECM can generate ECM fragments, which can be released into circulation and subsequently induce pro-inflammatory responses. COPD is a heterogeneous disease, and serological biomarkers can be used to sub-categorize COPD patients for targeted treatments and optimal recruitment in clinical trials. This study evaluated fragments of calprotectin, collagen type VI, and versican, generated by neutrophil elastase and matrix metalloproteinases (MMP-) 2 and 12, respectively, as potential biomarkers of COPD disease, severity, and endotypes. Lower plasma levels of a neoepitope marker of calprotectin, indicative of activated neutrophils (nordicCPa9-HNETM), were detected in COPD donors compared to controls. CPa9-HNE was associated with milder disease, higher degree of air-trapping, and higher serum levels of MMP-2. Deposition of CPa9-HNE levels in lung tissue revealed no differences between groups. Taken together, CPa9-HNE was found to be a potential marker of mild COPD, but further studies are warranted to validate our findings. Full article
(This article belongs to the Special Issue Biomarkers in Human Diseases and Emerging Diagnostic Technologies for Their Identification and Application)
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15 pages, 3042 KB  
Article
Intracellular Inclusions Induced by Patient-Derived and Amplified α-Synuclein Aggregates Are Morphologically Indistinguishable
by Rabab Al-Lahham, Mark E. Corkins, Mohd Ishtikhar, Prakruti Rabadia, Santiago Ramirez, Victor Banerjee and Mohammad Shahnawaz
Cells 2025, 14(10), 684; https://doi.org/10.3390/cells14100684 - 9 May 2025
Cited by 1 | Viewed by 1719
Abstract
Lewy Body Disease (LBD) and Multiple System Atrophy (MSA) are synucleinopathies with distinct prognoses and neuropathologies, however, with overlapping clinical symptoms. Different disease characteristics are proposed to be determined by distinct conformations of alpha-synuclein (α-Syn) aggregates, which can self-propagate and spread between cells [...] Read more.
Lewy Body Disease (LBD) and Multiple System Atrophy (MSA) are synucleinopathies with distinct prognoses and neuropathologies, however, with overlapping clinical symptoms. Different disease characteristics are proposed to be determined by distinct conformations of alpha-synuclein (α-Syn) aggregates, which can self-propagate and spread between cells via a prion-like mechanism. The goal of this study is to investigate whether α-syn aggregates amplified from brain and CSF samples of LBD and MSA patients using the Seed Amplification Assay (SAA) maintain α-Syn seeding properties similar to those of α-syn aggregates derived from patients’ brains. To address this, SAA-amplified and un-amplified α-Syn aggregates from LBD and MSA patients’ brains, as well as SAA-amplified α-Syn aggregates from LBD and MSA patients’ CSF samples, were used to treat synuclein biosensor cells, and induced intracellular α-Syn inclusions were analyzed by confocal microscopy. Our data indicate that induced α-Syn aggregates from LBD and MSA patients’ brains have similar seeding properties and morphological characteristics in the α-Syn biosensor cells as those amplified from LBD and MSA patients’ brains, as well as those amplified from LBD and MSA patients’ CSF samples. In this study, we demonstrated that, regardless of the source of aggregates, the seeds from LBD and MSA produce cellular accumulation of α-Syn with distinct morphologies, confirming the presence of different conformational strains of α-Syn in LBD and MSA and allowing us to differentiate synucleinopathies based on the morphology of aggregates and seeding properties. Full article
(This article belongs to the Special Issue Biomarkers in Human Diseases and Emerging Diagnostic Technologies for Their Identification and Application)
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