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Biomedicines
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Advancing Pharmacogenetics and Pharmacogenomics in Pre-Clinical Research: Unveiling New Avenues...
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Advancing Pharmacogenetics and Pharmacogenomics in Pre-Clinical Research: Unveiling New Avenues for Precision Medicine

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Drug Discovery, Development and Delivery".

Deadline for manuscript submissions: 30 November 2025 | Viewed by 527

Special Issue Editors

Dr. Shengying Qin

E-Mail Website
Guest Editor
Bio-X Institutes, Shanghai Jiaotong University, Shanghai, China
Interests: pharmacogenomics; pharmacogenetics; genome medicine; psychiatry disease; multi-omics
Dr. Cong Huai

E-Mail Website
Guest Editor
Institutes of Bio-X, Shanghai Jiaotong University, Shanghai, China
Interests: pharmacogenomics; drug-induced side effects; molecular diagnosis

Special Issue Information

Dear Colleagues,

Pharmacogenetics tailors medical treatments based on individual genetic variations, optimizing drug response, efficacy and safety. Pre-clinical research is crucial for translating these findings into clinical practice. This Special Issue aims to explore the latest discoveries in pharmacogenetics, with a focus on pre-clinical research and its impact on precision medicine.

We welcome original research articles and reviews on various aspects of pharmacogenetics in pre-clinical research, including genetic variant identification, mechanistic insights, novel models and methodologies, integrating pharmacogenetic data in drug development and translation. We seek contributions that will advance our understanding of pharmacogenetics and shape the future of personalized therapeutics.

Dr. Shengying Qin
Dr. Cong Huai
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. Biomedicines 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

  • pharmacogenetics
  • pharmacogenomics
  • precision medicine
  • individualized medicine

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Published Papers (1 paper)

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Review

27 pages, 1269 KB  
Review
Pharmacogenomics Applied to Acute Leukemias: Identifying Clinically Relevant Genetic Variants
by Flávia Melo Cunha de Pinho Pessoa, Isabelle Magalhães Farias, Beatriz Maria Dias Nogueira, Caio Bezerra Machado, Igor Valentim Barreto, Anna Karolyna da Costa Machado, Guilherme Passos de Morais, Leidivan Sousa da Cunha, Deivide de Sousa Oliveira, André Pontes Thé, Rodrigo Monteiro Ribeiro, Patrícia Maria Pontes Thé, Manoel Odorico de Moraes Filho, Maria Elisabete Amaral de Moraes and Caroline Aquino Moreira-Nunes
Biomedicines 2025, 13(11), 2581; https://doi.org/10.3390/biomedicines13112581 - 22 Oct 2025
Viewed by 388
Abstract
Acute leukemias are highly aggressive hematologic malignancies that demand intensive chemotherapy regimens. However, drug toxicity remains a major barrier to treatment success and patient survival. In this context, pharmacogenomics offers a promising strategy by identifying single-nucleotide variants (SNVs) that influence drug metabolism, efficacy, [...] Read more.
Acute leukemias are highly aggressive hematologic malignancies that demand intensive chemotherapy regimens. However, drug toxicity remains a major barrier to treatment success and patient survival. In this context, pharmacogenomics offers a promising strategy by identifying single-nucleotide variants (SNVs) that influence drug metabolism, efficacy, and toxicity, ultimately impacting treatment outcomes. This study analyzed data from the ClinPGx/PharmGKB database to identify clinically annotated variants related to chemotherapy response in Acute Myeloid Leukemia (AML) and Acute Lymphoblastic Leukemia (ALL). A total of 24 variants were curated for AML and 57 for ALL. Among these, nonsynonymous variants were most frequent in ALL (31.6%), while synonymous variants predominated in AML (33.3%). Although traditionally considered neutral, synonymous and intronic variants may influence gene expression through regulatory or splicing mechanisms. The analysis revealed clinically significant variants associated with chemotherapy response, particularly in the ABCB1 gene, observed in 12.5% of AML and 10.5% of ALL cases. Several variants, particularly TPMT, NUDT15, ABCC1, SLC28A3, and RARG, were associated with severe adverse effects such as myelotoxicity, mucositis, cardiotoxicity, and hepatotoxicity. This study reinforces the importance of genetic variants in modulating the therapeutic response and toxicity to chemotherapy drugs in acute leukemias. Analysis of ClinPGx/PharmGKB data emphasizes ABCB1 as a potential resistance marker and supports pre-treatment genotyping of genes like TPMT and NUDT15 to prevent severe toxicities. Future advances should include the expansion of pharmacogenetic studies in underrepresented populations and the clinical validation of new markers in prospective trials, aiming to consolidate precision medicine as a routine part of the therapeutic management of acute leukemias. Full article
(This article belongs to the Special Issue Advancing Pharmacogenetics and Pharmacogenomics in Pre-Clinical Research: Unveiling New Avenues for Precision Medicine)
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