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The 15th Anniversary of Genes: Feature Papers in the...
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The 15th Anniversary of Genes: Feature Papers in the Human Genomics and Genetic Diseases Section

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (31 December 2025) | Viewed by 3801

Special Issue Editors

Prof. Dr. Gil Atzmon

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Guest Editor
Epigenetics and Genomics of Aging/Longevity, Department of Biology, Faculty of Natural Sciences University of Haifa Mount Carmel, Haifa 31905, Israel
Interests: longevity; genomic; epigenomic; genetic; epigenetic; healthy aging; healthy lifespan; diabetes
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Mariarosa Anna Beatrice Melone

E-Mail Website
Guest Editor
1. Department of Medical and Surgical Advanced Sciences, Second Division of Neurology , Center for Rare Neurological and Neuromuscular Diseases & Inter University Center for Research in Neurosciences, University of Campania Luigi Vanvitelli, Naples , Italy
2. Sbarro Institute for Cancer Research and Molecular Medicine, Department of Biology, Center for Biotechnology, College of Science and Technology, Temple University, Philadelphia, PA, USA
Interests: genetics of rare neurologic and neuromuscular diseases; translational neurogenetics; clinical & molecular neurogenetics; applied stem cell biology; systems neuroscience; neuropathology and experimental neurobiology; nanotechnology in nutraceuticals and functional fods; roles of autophagy in neurodegenerative diseases; clinical neurology of adults and children
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue, entitled “The 15th Anniversary of Genes: Feature Papers in the Human Genomics and Genetic Diseases Section”, will gather high-quality reviews or research articles on all aspects of human health and disease, as well as the diagnosis, treatment, and prognosis of genetic disorders and heritable or acquired cancers. It will be dedicated to recent advances in the research area of genomics and genetics and will comprise a selection of exclusive papers from the Editorial Board Members (EBMs) of the Human Genomics and Genetic Section, as well as invited papers from relevant experts. We also invite senior experts in the field to contribute to this Special Issue.

This Special Issue will celebrate the 15th anniversary of Genes and the 10th anniversary of the journal receiving its first impact factor. We aim to showcase our section as an attractive open access publishing platform for genomics and genetic research.

Prof. Dr. Gil Atzmon
Prof. Dr. Mariarosa Anna Beatrice Melone
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 250 words) can be sent to the Editorial Office for assessment.

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. Genes is an international peer-reviewed open access monthly 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 2600 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

  • genetics of monogenic diseases and complex diseases
  • genotype–phenotype relationships
  • population genomics and genetic epidemiology
  • precision medicine
  • pharmacogenetics and pharmacogenomics
  • targeted genome editing
  • gene therapy and delivery systems
  • genetically engineered cell therapy
  • RNA- and small nucleic acid-based therapeutics
  • genetic testing and molecular diagnostics
  • biomarker development and application
  • genome-wide association studies
  • epigenetic therapy
  • developmental genetics, epigenetics, and epigenomics

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

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Review

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23 pages, 1076 KB  
Review
Chromosomal Instability and Telomere Attrition in Systemic Sclerosis: A Historical Perspective
by Carol M. Artlett
Genes 2025, 16(12), 1466; https://doi.org/10.3390/genes16121466 - 8 Dec 2025
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Abstract
Background/Objectives: Systemic sclerosis (SSc) is a rare, complex autoimmune disease characterized by fibrosis of the skin and internal organs. While its pathogenesis is not fully understood, chromosomal instability and telomere attrition have emerged as significant areas of investigation. Methods: This review provides a [...] Read more.
Background/Objectives: Systemic sclerosis (SSc) is a rare, complex autoimmune disease characterized by fibrosis of the skin and internal organs. While its pathogenesis is not fully understood, chromosomal instability and telomere attrition have emerged as significant areas of investigation. Methods: This review provides a historical narrative perspective and synthesizes current findings on the role of these genomic anomalies in SSc pathogenesis. We synthesized findings from foundational and recent research articles investigating genotoxic factors, chromosomal aberrations, and telomere biology in SSc. Results: There is a strong historical basis for chromosomal instability in SSc, manifesting as micronuclei, translocations, and breaks. This instability is driven by clastogenic factors and oxidative stress. SSc-specific autoantibodies are implicated; anti-centromere antibodies correlate with aneuploidy and micronuclei, while anti-topoisomerase I may inhibit DNA repair. SSc is also characterized by significant telomere attrition, first reported in 1996 and now confirmed by additional genetic studies. This telomere loss is associated with reduced telomerase activity and the presence of autoantibodies against telomere-associated proteins, including shelterin components. Conclusions: We conclude that inflammation, telomere attrition, and chromosomal instability are linked in a self-perpetuating cycle that drives SSc pathogenesis. We propose that an initial inflammatory stimulus leads to reactive oxygen species production, causing telomere damage and attrition. Critically short telomeres trigger faulty DNA repair mechanisms, such as breakage–fusion–bridge cycles, resulting in chromosomal instability. This genomic damage, in turn, acts as a danger signal, further activating inflammatory pathways and creating a feedback loop that perpetuates fibrosis. Full article
(This article belongs to the Special Issue The 15th Anniversary of Genes: Feature Papers in the Human Genomics and Genetic Diseases Section)
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19 pages, 1286 KB  
Review
Advances in Genitourinary Tumor Genomics and Immunotherapy
by Jasmine Vohra, Gabriela Barbosa, Lívia Bitencourt Pascoal and Leonardo O. Reis
Genes 2025, 16(6), 667; https://doi.org/10.3390/genes16060667 - 30 May 2025
Cited by 3 | Viewed by 2220
Abstract
Advancements in immune monitoring and modulation technologies are driving transformative changes in cancer immunotherapy. These innovations are crucial for assessing patient-specific immune responses, enabling more accurate predictions of therapeutic efficacy and enhancing treatment outcomes. This review provides a comprehensive overview of current technologies [...] Read more.
Advancements in immune monitoring and modulation technologies are driving transformative changes in cancer immunotherapy. These innovations are crucial for assessing patient-specific immune responses, enabling more accurate predictions of therapeutic efficacy and enhancing treatment outcomes. This review provides a comprehensive overview of current technologies used in immune monitoring, such as flow cytometry, single-cell RNA sequencing, and multiplex cytokine profiling. It also explores cutting-edge immune modulation methods, such as biomaterials that activate immune cells and genetically engineered cell-based therapies. We examine the strengths and limitations of these techniques and identify areas where further progress is needed. In particular, we explore how personalized therapies, real-time monitoring systems, and artificial intelligence shape the future of immune-based treatments. Through a comparative analysis of existing platforms and emerging solutions, this paper underscores the importance of integrating diverse scientific approaches—from immunology and bioengineering to data science—in advancing safer, more effective cancer treatments. This interdisciplinary approach promises to enhance the precision and accessibility of immune-based therapies, offering new hope for improved cancer care. Full article
(This article belongs to the Special Issue The 15th Anniversary of Genes: Feature Papers in the Human Genomics and Genetic Diseases Section)
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Other

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16 pages, 1426 KB  
Systematic Review
Long Non-Coding RNAs in Multiple Sclerosis—Differential Expression and Functional Implications
by Kaalindi Misra, Aishwary Nerkar, Ferdinando Clarelli, Melissa Sorosina and Federica Esposito
Genes 2025, 16(11), 1327; https://doi.org/10.3390/genes16111327 - 3 Nov 2025
Viewed by 636
Abstract
Background/Objectives: Long non-coding RNAs (lncRNAs) are increasingly recognized as key regulators of immune pathways and may hold diagnostic and therapeutic relevance in autoimmune diseases such as Multiple Sclerosis (MS). However, research on lncRNAs in MS remains fragmented and geographically clustered. This systematic review [...] Read more.
Background/Objectives: Long non-coding RNAs (lncRNAs) are increasingly recognized as key regulators of immune pathways and may hold diagnostic and therapeutic relevance in autoimmune diseases such as Multiple Sclerosis (MS). However, research on lncRNAs in MS remains fragmented and geographically clustered. This systematic review aimed to collate and critically evaluate studies of lncRNA expression in MS, assess consistency of findings across studies, and synthesize proposed functional implications of the most frequently studied lncRNAs. Methods: This PROSPERO-registered review (CRD420250575938), conducted in accordance with PRISMA, searched PubMed, Scopus, Embase, and Web of Science (2010–2024) for studies evaluating lncRNA expression in adult MS (≥18 years of age). Eligible studies included ≥20 participants and assessed lncRNAs in blood, PBMCs, serum, plasma, or CSF using qRT-PCR, RNA-seq, or microarrays. Pediatric, review, animal, and in vitro studies were excluded. Two reviewers independently screened and extracted data, with risk of bias evaluated using QUADAS-2. Results: Narrative synthesis of 51 studies identified 77 unique lncRNAs. A limited set (MALAT1, GAS5, MEG3, H19) demonstrated consistent dysregulation in MS, whereas others (THRIL, IFNG-AS1, HOTAIR, TUG1) exhibited context-dependent expression influenced by treatment, relapse status, or demographics. Functional annotations converged on immune pathways, including NF-κB, STAT3, IFN-γ/Th1, and glucocorticoid signaling. Conclusions: This review identifies reproducible and context-specific lncRNA dysregulation in MS, emphasizing the need for transcriptome-wide approaches, standardized methods, and multi-center validation. Current evidence is constrained by geographic clustering, preselection bias, and methodological heterogeneity. Full article
(This article belongs to the Special Issue The 15th Anniversary of Genes: Feature Papers in the Human Genomics and Genetic Diseases Section)
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