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Omics Science and Research in Human Health and Disease
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Omics Science and Research in Human Health and Disease

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 1838

Special Issue Editor

Dr. Elisa De Paolis

E-Mail Website
Guest Editor
Departmental Unit of Molecular and Genomic Diagnostics, Genomics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
Interests: genomics; molecular diagnostics; next generation sequencing; liquid biopsy; molecular biology; proteogenomic; molecular pathology

Special Issue Information

Dear Colleagues,

Technological advances in high-throughput approaches over the last decade have uncovered detailed biological and molecular information on human health and diseases. State-of-the-art omics approaches include genomics, transcriptomics, proteomics, metabolomics, and other fields that play a prominent role in promoting studies across multiple levels of biology. Currently, the application of omics sciences is crucial for several human research areas spanning disease mechanism understanding and treatment. The widespread use of omics leads to an exponential increase in output data. Most recently, the availability of computational approaches of correlation, machine learning, and deep learning has allowed the integration and sharing of datasets belonging to different omics analyses. From data integration, multi-omics can be applied to understand complex molecular system and to study comprehensive human disease, biomarker identification and monitoring, and novel target-therapy development.

This Special Issue aims to explore the forefront of omics application and its translational relevance in human health and disease. It focuses on the existing omics technologies, from experimental design to bioinformatics data analysis. Additionally, it will be dedicated also to multi-omics approaches aimed at improving the integration of datasets. Finally, discussion about ongoing and future prospective challenges, especially in the area of precision medicine, will be featured. This Special Issue will provide a comprehensive resource highlighting cutting-edge experimental approaches and novel trends in this rapidly evolving area.

Dr. Elisa De Paolis
Guest Editor

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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • genomics
  • transcriptomics
  • proteomics
  • metabolomics
  • single-cell analysis
  • spatial transcriptomics
  • bioinformatics
  • multi-omics

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Published Papers (2 papers)

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Research

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25 pages, 3119 KiB  
Article
MicroRNA Expression Profile in Acute Ischemic Stroke
by Shraddha Mainali, Gaurav Nepal, Kirill Shumilov, Amy Webb, Paolo Fadda, Darya Mirebrahimi, Mohammad Hamed, Patrick Nana-Sinkam, Bradford B. Worrall, Daniel Woo and Nicholas Johnson
Int. J. Mol. Sci. 2025, 26(2), 747; https://doi.org/10.3390/ijms26020747 - 17 Jan 2025
Viewed by 1311
Abstract
Acute ischemic stroke with large vessel occlusion (LVO) continues to present a considerable challenge to global health, marked by substantial morbidity and mortality rates. Although definitive diagnostic markers exist in the form of neuroimaging, their expense, limited availability, and potential for diagnostic delay [...] Read more.
Acute ischemic stroke with large vessel occlusion (LVO) continues to present a considerable challenge to global health, marked by substantial morbidity and mortality rates. Although definitive diagnostic markers exist in the form of neuroimaging, their expense, limited availability, and potential for diagnostic delay can often result in missed opportunities for life-saving interventions. Despite several past attempts, research efforts to date have been fraught with challenges likely due to multiple factors, such as the inclusion of diverse stroke types, variable onset intervals, differing pathobiologies, and a range of infarct sizes, all contributing to inconsistent circulating biomarker levels. In this context, microRNAs (miRNAs) have emerged as a promising biomarker, demonstrating potential as biomarkers across various diseases, including cancer, cardiovascular conditions, and neurological disorders. These circulating miRNAs embody a wide spectrum of pathophysiological processes, encompassing cell death, inflammation, angiogenesis, neuroprotection, brain plasticity, and blood–brain barrier integrity. This pilot study explores the utility of circulating exosome-enriched extracellular vesicle (EV) miRNAs as potential biomarkers for anterior circulation LVO (acLVO) stroke. In our longitudinal prospective cohort study, we collected data from acLVO stroke patients at four critical time intervals post-symptom onset: 0–6 h, 6–12 h, 12–24 h, and 5–7 days. For comparative analysis, healthy individuals were included as control subjects. In this study, extracellular vesicles (EVs) were isolated from the plasma of participants, and the miRNAs within these EVs were profiled utilizing the NanoString nCounter system. Complementing this, a scoping review was conducted to examine the roles of specific miRNAs such as miR-140-5p, miR-210-3p, and miR-7-5p in acute ischemic stroke (AIS). This review involved a targeted PubMed search to assess their influence on crucial pathophysiological pathways in AIS, and their potential applications in diagnosis, treatment, and prognosis. The review also included an assessment of additional miRNAs linked to stroke. Within the first 6 h of symptom onset, three specific miRNAs (miR-7-5p, miR-140-5p, and miR-210-3p) exhibited significant differential expression compared to other time points and healthy controls. These miRNAs have previously been associated with neuroprotection, cellular stress responses, and tissue damage, suggesting their potential as early markers of acute ischemic stroke. This study highlights the potential of circulating miRNAs as blood-based biomarkers for hyperacute acLVO ischemic stroke. However, further validation in a larger, risk-matched cohort is required. Additionally, investigations are needed to assess the prognostic relevance of these miRNAs by linking their expression profiles with radiological and functional outcomes. Full article
(This article belongs to the Special Issue Omics Science and Research in Human Health and Disease)
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Review

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34 pages, 1409 KiB  
Review
Spatial Omics in Clinical Research: A Comprehensive Review of Technologies and Guidelines for Applications
by Yoonji Lee, Mingyu Lee, Yoojin Shin, Kyuri Kim and Taejung Kim
Int. J. Mol. Sci. 2025, 26(9), 3949; https://doi.org/10.3390/ijms26093949 - 22 Apr 2025
Abstract
Spatial omics integrates molecular profiling with spatial tissue context, enabling high-resolution analysis of gene expression, protein interactions, and epigenetic modifications. This approach provides critical insights into disease mechanisms and therapeutic responses, with applications in cancer, neurology, and immunology. Spatial omics technologies, including spatial [...] Read more.
Spatial omics integrates molecular profiling with spatial tissue context, enabling high-resolution analysis of gene expression, protein interactions, and epigenetic modifications. This approach provides critical insights into disease mechanisms and therapeutic responses, with applications in cancer, neurology, and immunology. Spatial omics technologies, including spatial transcriptomics, proteomics, and epigenomics, facilitate the study of cellular heterogeneity, tissue organization, and cell–cell interactions within their native environments. Despite challenges in data complexity and integration, advancements in multi-omics pipelines and computational tools are enhancing data accuracy and biological interpretation. This review provides a comprehensive overview of key spatial omics technologies, their analytical methods, validation strategies, and clinical applications. By integrating spatially resolved molecular data with traditional omics, spatial omics is transforming precision medicine, biomarker discovery, and personalized therapy. Future research should focus on improving standardization, reproducibility, and multimodal data integration to fully realize the potential of spatial omics in clinical and translational research. Full article
(This article belongs to the Special Issue Omics Science and Research in Human Health and Disease)
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