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Harnessing Genomic Data for Disease Understanding and Drug Discovery

A special issue of Current Issues in Molecular Biology (ISSN 1467-3045). This special issue belongs to the section "Bioinformatics and Systems Biology".

Deadline for manuscript submissions: 30 April 2026 | Viewed by 2212

Special Issue Editor


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Guest Editor
Kashi Clinical Laboratory, Portland, OR 97219, USA
Interests: next-generation sequencing; single-cell sequencing; metagenomics; epigenomics; precision medicine
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Genetic data have transformed medicine in recent years with their unparalleled insights into disease mechanisms, patient reactions, and possible treatment targets. The rapid evolution of NGS technologies has revolutionized our ability to decode the human genome, unlocking unprecedented insights into the genetic basis of health and disease. By enabling the comprehensive analysis of genomic, transcriptomic, and epigenomic landscapes, NGS has become a cornerstone of precision medicine. Through large-scale genomic studies, researchers can identify the genetic variants associated with complex diseases, elucidate pathogenic mechanisms, and uncover novel therapeutic targets.

Integrating genomic data with clinical and phenotypic information accelerates the discovery of disease biomarkers and informs patient stratification strategies. This approach enhances drug development pipelines by improving target validation and reducing attrition rates in clinical trials. Moreover, the use of pharmacogenomics offers the possibility of customizing treatments for each patient, increasing effectiveness while reducing side effects. Approaches like multi-omics that integrate genomics with other omics data, such as proteomics and metabolomics, provide a more comprehensive understanding of disease mechanisms and potential therapeutic targets.

Recent advances in computational biology and artificial intelligence are further enhancing our ability to interpret genomic datasets, leading to more refined disease models as well as informed drug design. Therefore, one can conclude, as we continue to harness the power of genomic data, that we are moving closer to an era where disease prevention, diagnosis, and treatment are guided by a deep understanding of personalized medicine. Gene therapies like gene editing, cell-based therapies, and RNA-based treatments have the potential to revolutionize the treatment of genetic disorders and other complex diseases.

Dr. Gaurav Tripathi
Guest Editor

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Keywords

  • pharmacogenomics
  • genomics
  • transcriptomics
  • epigenomics
  • drug discovery

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Published Papers (3 papers)

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Research

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26 pages, 5445 KB  
Article
Exploring Novel Inhibitory Compounds Against Phosphatase Gamma 2: A Therapeutic Target for Male Contraceptives
by Hashim M. Aljohani, Bayan T. Bokhari, Alaa M. Saleh, Areej Yahya Alyahyawi, Renad M. Alhamawi, Mariam M. Jaddah, Mohammad A. Alobaidy and Alaa Abdulaziz Eisa
Curr. Issues Mol. Biol. 2025, 47(8), 658; https://doi.org/10.3390/cimb47080658 - 15 Aug 2025
Viewed by 1271
Abstract
Men have limited options for contraception, despite the widely accepted public health benefits of it, placing the contraceptive burden solely on women. The current study focuses on inhibiting the PP1γ2 enzyme, which plays a role in sperm maturation and motility. The study considered [...] Read more.
Men have limited options for contraception, despite the widely accepted public health benefits of it, placing the contraceptive burden solely on women. The current study focuses on inhibiting the PP1γ2 enzyme, which plays a role in sperm maturation and motility. The study considered three top compounds based on the findings of molecular docking. The three compounds exhibited a good interaction profile with a binding affinity score of D751-0223 (−8.7 kcal/mol), D751-014 (−8.1 kcal/mol), and N117-0087 (−8 kcal/mol) measured in kcal/mol. Molecular dynamics simulation (MDS) were performed on the PP1γ2–ligand complexes along with the Apo form. The results suggested that all the complexes were stable with no major deviations observed compared to Apo. The average RMSDs for PP1γ2-D751-0223, D751-014, and Apo were 1.27 Å, 1.73 Å, 1.39 Å, and 1.69 Å, respectively. The PP1γ2–ligand complexes were observed with unique salt bridge interactions such as Glu133-Arg137, Asp4-Lys107, Asp188-Arg116, and Glu120-Arg90. The principal component analysis (PCA) findings indicated that every complex had a distinctive motion state. Furthermore, the net MM/PBSA scores for D751-0223, D751-0143, and N117-0087 were −80.01 kcal/mol, −72.18 kcal/mol, and −64.26 kcal/mol, respectively, while the MM/GBSA and MM/PBSA values were −82, −73.07,−67.26 and −80.01, −72.18, −64.26, measured in kcal/mol, respectively. The WaterSwap energy estimation was performed to validate the former technique, and the findings demonstrated that PP1γ2-D751-0223 is a stable complex, with a value of −51.05 kcal/mol. This work provides a baseline to researchers for the identification of novel therapeutic approaches for non-hormonal male contraceptives. Full article
(This article belongs to the Special Issue Harnessing Genomic Data for Disease Understanding and Drug Discovery)
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Review

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15 pages, 906 KB  
Review
The Role of Brain-Derived Neurotrophic Factor (BDNF) in Neural Development and Cognitive Behavior in Pigeons: Advances and Future Perspectives
by Guanhui Liu, Luyao Li, Su Wang, Jiarong Sun, Yongyan Han, Yaxuan Gao and Dongmei Han
Curr. Issues Mol. Biol. 2026, 48(4), 384; https://doi.org/10.3390/cimb48040384 - 8 Apr 2026
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Abstract
Brain-Derived Neurotrophic Factor (BDNF), a key member of the neurotrophin family, is critically involved in neuronal survival, synaptic plasticity, learning, and memory. While its roles in mammals have been extensively documented, the molecular regulatory mechanisms governing BDNF expression and its causal contributions to [...] Read more.
Brain-Derived Neurotrophic Factor (BDNF), a key member of the neurotrophin family, is critically involved in neuronal survival, synaptic plasticity, learning, and memory. While its roles in mammals have been extensively documented, the molecular regulatory mechanisms governing BDNF expression and its causal contributions to complex cognitive behaviors remain poorly understood in non-mammalian vertebrates—particularly for the domestic pigeon (Columba livia domestica), a species distinguished by its remarkable spatial navigation and homing capabilities. This review synthesizes the current evidence on BDNF in the pigeon central nervous system across five thematic domains: molecular structure and isoform diversity, transcriptional and epigenetic regulatory networks, involvement in neural development, associations with cognitive and navigational behaviors, and potential translational applications. A particular emphasis is placed on the region-specific and activity-dependent expression patterns of BDNF in brain structures such as the hippocampal formation (HF), optic tectum, and striatum, and their functional relevance to visual processing, homing behavior, and stress adaptation. To date, most findings remain correlational; therefore, establishing a mechanistic understanding necessitates the integration of advanced methodologies—including single-cell omics, CRISPR-based gene editing, and high-resolution behavioral phenotyping—to causally link BDNF dynamics, neural circuit modulation, and spatial cognition. This synthesis aims to bridge gaps in comparative neurobiology, inform molecular approaches to avian cognitive enhancement, and support evidence-based strategies for racing pigeon breeding and welfare assessment. Full article
(This article belongs to the Special Issue Harnessing Genomic Data for Disease Understanding and Drug Discovery)
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30 pages, 3828 KB  
Review
Methodological Landscape of DNA Damage Response Detection: From Conventional Assays to Future Innovations
by Yan Xi, Xinchen Yan, Jiahao Liu, Siqi Li, Xinyang Zhang, Yiwen Hou, Minjie Chu and Minfeng Yang
Curr. Issues Mol. Biol. 2026, 48(4), 339; https://doi.org/10.3390/cimb48040339 - 24 Mar 2026
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Abstract
All living organisms possess a DNA damage response (DDR) that is important for genetic evolution. Cells have developed comprehensive mechanisms for addressing DNA damage, collectively called the DNA damage response and repair. External environmental stress continuously disrupts genomic integrity and triggers various pathological [...] Read more.
All living organisms possess a DNA damage response (DDR) that is important for genetic evolution. Cells have developed comprehensive mechanisms for addressing DNA damage, collectively called the DNA damage response and repair. External environmental stress continuously disrupts genomic integrity and triggers various pathological changes. The failure of the DDR network often drives cell carcinogenesis, and its core components not only serve as biological markers for disease monitoring but also represent highly promising molecular targets for targeted therapy. Therefore, there is a high level of interest in exploring DDR-related biomarkers as cutting-edge therapeutic regimens and developing highly sensitive tools for DDR diagnosis. These methods should assess the rate of damage occurrence and distinguish when repair pathways are activated. These kinds of advances are key to preserving genetic stability and detecting and preventing diseases early. Here, we provide a broad summary of recent advances in DDR detection technologies, with a particular focus on the complementarity between different techniques. We have also summarized current technological bottlenecks, future research paradigms, and clinical translation pathways. The insights presented in this review will contribute to the development of multidisciplinary integrated DDR detection technologies, promote the establishment of DDR biomarker detection systems, and provide crucial methodological references for targeted drug development, efficacy evaluation, and resistance mechanism research targeting the DDR pathway. Full article
(This article belongs to the Special Issue Harnessing Genomic Data for Disease Understanding and Drug Discovery)
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