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Pharmacogenetics and Pharmacogenomics
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Pharmacogenetics and Pharmacogenomics

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

Deadline for manuscript submissions: closed (31 December 2024) | Viewed by 3144

Special Issue Editor

Dr. Francesco Sessa

E-Mail Website
Guest Editor
Department of Medical, Surgical and Advanced Technologies “G.F. Ingrassia”, University of Catania, 95121 Catania, Italy
Interests: genetics and molecular biology; forensic and biological sciences; forensic genetics; genomic physiology; aging and genetics; pharmacology; toxicology; health professions; translational pharmacology; biochemistry
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Pharmacogenetics and pharmacogenomics are rapidly evolving fields that examine the role of genetic and genomic variation on drug response and efficacy. These disciplines hold the promise of personalized medicine, where treatments can be tailored to individual genetic profiles to maximize therapeutic efficacy and minimize adverse effects.  Moreover, the rapid advancements in pharmacogenetics and pharmacogenomics hold significant potential for transforming forensic sciences.

This Special Issue aims to highlight the latest research, advancements, and applications of pharmacogenetics and pharmacogenomics, fostering a deeper understanding of their impact on medicine, healthcare, and forensic investigations.

We invite researchers, clinicians, and scholars to submit original research articles, review papers, and technical notes on the following topics:

  • Genetic Determinants of Drug Metabolism and Response;
  • Pharmacogenomic Biomarkers and Predictive Models;
  • Technological Innovations in Pharmacogenomics;
  • Pharmacogenetics and Pharmacogenomics tools.

In this regard, this Special Issue aims to collect accurate and up-to-date scientific information on all aspects of Pharmacogenetics and Pharmacogenomics techniques and applications currently used to analyze human samples, in the form of original research articles, communications, case reports, and reviews.

Dr. Francesco Sessa
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

  • pharmacogenetics
  • pharmacogenomics
  • personalized medicine
  • precision medicine
  • genetic mutation
  • gene polymorphisms
  • sequencing technologies
  • biomarker
  • drug response
  • targeted therapy

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Published Papers (2 papers)

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Review

23 pages, 696 KiB  
Review
The Rise of Fentanyl: Molecular Aspects and Forensic Investigations
by Cecilia Barletta, Virginia Di Natale, Massimiliano Esposito, Mario Chisari, Giuseppe Cocimano, Lucio Di Mauro, Monica Salerno and Francesco Sessa
Int. J. Mol. Sci. 2025, 26(2), 444; https://doi.org/10.3390/ijms26020444 - 7 Jan 2025
Viewed by 1010
Abstract
Fentanyl is a synthetic opioid widely used for its potent analgesic effects in chronic pain management and intraoperative anesthesia. However, its high potency, low cost, and accessibility have also made it a significant drug of abuse, contributing to the global opioid epidemic. This [...] Read more.
Fentanyl is a synthetic opioid widely used for its potent analgesic effects in chronic pain management and intraoperative anesthesia. However, its high potency, low cost, and accessibility have also made it a significant drug of abuse, contributing to the global opioid epidemic. This review aims to provide an in-depth analysis of fentanyl’s medical applications, pharmacokinetics, metabolism, and pharmacogenetics while examining its adverse effects and forensic implications. Special attention is given to its misuse, polydrug interactions, and the challenges in determining the cause of death in fentanyl-related fatalities. Fentanyl misuse has escalated dramatically, driven by its substitution for heroin and its availability through online platforms, including the dark web. Polydrug use, where fentanyl is combined with substances like xylazine, alcohol, benzodiazepines, or cocaine, exacerbates its toxicity and increases the risk of fatal outcomes. Fentanyl undergoes rapid distribution, metabolism by CYP3A4 into inactive metabolites, and renal excretion. Genetic polymorphisms in CYP3A4, OPRM1, and ABCB1 significantly influence individual responses to fentanyl, affecting its efficacy and potential for toxicity. Fentanyl’s side effects include respiratory depression, cardiac arrhythmias, gastrointestinal dysfunction, and neurocognitive impairments. Chronic misuse disrupts brain function, contributes to mental health disorders, and poses risks for younger and older populations alike. Fentanyl-related deaths require comprehensive forensic investigations, including judicial inspections, autopsies, and toxicological analyses. Additionally, the co-administration of xylazine presents distinct challenges for the scientific community. Histological and immunohistochemical studies are essential for understanding organ-specific damage, while pharmacogenetic testing can identify individual susceptibilities. The growing prevalence of fentanyl abuse highlights the need for robust forensic protocols, advanced research into its pharmacogenetic variability, and strategies to mitigate its misuse. International collaboration, public education, and harm reduction measures are critical for addressing the fentanyl crisis effectively. Full article
(This article belongs to the Special Issue Pharmacogenetics and Pharmacogenomics)
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20 pages, 1733 KiB  
Review
New Advances in Metastatic Urothelial Cancer: A Narrative Review on Recent Developments and Future Perspectives
by Elena Tonni, Marco Oltrecolli, Marta Pirola, Cyrielle Tchawa, Sara Roccabruna, Elisa D’Agostino, Rossana Matranga, Claudia Piombino, Stefania Pipitone, Cinzia Baldessari, Francesca Bacchelli, Massimo Dominici, Roberto Sabbatini and Maria Giuseppa Vitale
Int. J. Mol. Sci. 2024, 25(17), 9696; https://doi.org/10.3390/ijms25179696 - 7 Sep 2024
Cited by 1 | Viewed by 1801
Abstract
The standard of care for advanced or metastatic urothelial carcinoma (mUC) was historically identified with platinum-based chemotherapy. Thanks to the advances in biological and genetic knowledge and technologies, new therapeutic agents have emerged in this setting recently: the immune checkpoint inhibitors and the [...] Read more.
The standard of care for advanced or metastatic urothelial carcinoma (mUC) was historically identified with platinum-based chemotherapy. Thanks to the advances in biological and genetic knowledge and technologies, new therapeutic agents have emerged in this setting recently: the immune checkpoint inhibitors and the fibroblast growth factor receptor inhibitors as the target therapy for patients harboring alterations in the fibroblast growth factor receptor (FGFR) pathway. However, chasing a tumor’s tendency to recur and progress, a new class of agents has more recently entered the scene, with promising results. Antibody–drug conjugates (ADCs) are in fact the latest addition, with enfortumab vedotin being the first to receive accelerated approval by the U.S. Food and Drug Administration in December 2019, followed by sacituzumab govitecan. Many other ADCs are still under investigation. ADCs undoubtedly represent the new frontier, with the potential of transforming the management of mUC treatment in the future. Therefore, we reviewed the landscape of mUC treatment options, giving an insight into the molecular basis and mechanisms, and evaluating new therapeutic strategies in the perspective of more and more personalized treatments. Full article
(This article belongs to the Special Issue Pharmacogenetics and Pharmacogenomics)
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