Genetic Biomarkers and Their Expression for Human Diseases: From the Laboratory to the Patient’s Bedside

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

Deadline for manuscript submissions: closed (25 April 2024) | Viewed by 841

Special Issue Editor

Special Issue Information

Dear Colleagues,

The genetic markers in histopathological and body fluid samples have received increasing attention in recent years. Since the first works conducted in the field of oncology, a broad spectrum of conditions like inflammatory diseases, neuropsychiatric disorders, or vascular alterations have benefited from the implementation of promising biomarkers of diagnostic, prognostic, predictive, and therapeutic value. Indeed, multiple areas of translational research have derived from the inclusion of genetic biomarkers in the context of personalized medicine like pharmacogenomics, pharmacogenetics, or pharmacomicrobiomics. However, the limited number of genetic biomarkers currently considered in clinical practice and the plethora of applications with respect to different pathological conditions make them a key point of study that is worth exploring in detail.

Therefore, the aim of this Special Issue is to gain further insights into the use of genetic biomarkers in the context of human diseases either from a translational or individualized perspective. Submissions consisting of original works and reviews that analyze or describe the applications of genetic markers in tissue or body fluid samples are welcome, so too are submissions in the form of systematic reviews, meta-analyses, and any type of scientific article that provides added value to this highly relevant field of biomedicine.

Prof. Dr. Miguel A. Ortega
Guest Editor

Manuscript Submission Information

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Keywords

  • genetic
  • genetic and protein expression
  • translational medicine
  • human diseases
  • molecular pathology
  • diagnostics
  • therapeutics

Published Papers (1 paper)

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Review

11 pages, 694 KiB  
Review
Extrachromosomal Circular DNA: An Emerging Potential Biomarker for Inflammatory Bowel Diseases?
by Valentina Petito, Federica Di Vincenzo, Lorenza Putignani, Maria T. Abreu, Birgitte Regenberg, Antonio Gasbarrini and Franco Scaldaferri
Genes 2024, 15(4), 414; https://0-doi-org.brum.beds.ac.uk/10.3390/genes15040414 - 26 Mar 2024
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Abstract
Inflammatory bowel disease (IBD) comprising ulcerative colitis and Crohn’s disease is a chronic immune-mediated disease which affects the gastrointestinal tract with a relapsing and remitting course, causing lifelong morbidity. IBD pathogenesis is determined by multiple factors including genetics, immune and microbial factors, and [...] Read more.
Inflammatory bowel disease (IBD) comprising ulcerative colitis and Crohn’s disease is a chronic immune-mediated disease which affects the gastrointestinal tract with a relapsing and remitting course, causing lifelong morbidity. IBD pathogenesis is determined by multiple factors including genetics, immune and microbial factors, and environmental factors. Although therapy options are expanding, remission rates are unsatisfiable, and together with the disease course, response to therapy remains unpredictable. Therefore, the identification of biomarkers that are predictive for the disease course and response to therapy is a significant challenge. Extrachromosomal circular DNA (eccDNA) fragments exist in all tissue tested so far. These fragments, ranging in length from a few hundreds of base pairs to mega base pairs, have recently gained more interest due to technological advances. Until now, eccDNA has mainly been studied in relation to cancer due to its ability to act as an amplification site for oncogenes and drug resistance genes. However, eccDNA could also play an important role in inflammation, expressed both locally in the- involved tissue and at distant sites. Here, we review the current evidence on the molecular mechanisms of eccDNA and its role in inflammation and IBD. Additionally, the potential of eccDNA as a tissue or plasma marker for disease severity and/or response to therapy is evaluated. Full article
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