Current Status and Future Directions of Molecular Genetics and Genetic Diseases

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".

Deadline for manuscript submissions: 30 June 2026 | Viewed by 152

Special Issue Editor


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Guest Editor
1. Department of Biology and Medical Genetics, Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia
2. Department of Clinical Medicine, Faculty of Dental Medicine and Health, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia
Interests: medical genetics; medical biology; hematology; oncology; endocrinology; immunology
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Special Issue Information

Dear Colleagues,

Molecular genetics has advanced rapidly over the past few decades, revolutionizing our understanding of genetic diseases and human biology. Today, technologies such as next-generation sequencing (NGS), genome-wide association studies (GWASs), and CRISPR-based genome editing have made it possible to identify disease-causing mutations with unprecedented accuracy and speed. These tools have improved diagnostic capabilities, enabled personalized medicine, and facilitated the development of targeted therapies for both rare and complex genetic disorders. Despite these achievements, challenges remain. Many genetic diseases still lack effective treatments, and the interpretation of variants of uncertain significance continues to limit clinical applications. Ethical issues, such as genetic privacy and germline editing, also require careful consideration as molecular genetics becomes more integrated into healthcare. Looking forward, this field is moving toward a future of precision medicine powered by artificial intelligence, large-scale genomic databases, and integrative “multi-omics” approaches that combine genomics, transcriptomics, proteomics, and metabolomics. Gene therapy, RNA-based treatments, and genome editing technologies hold great promise for correcting genetic defects at their source. Continued research, global collaboration, and responsible regulation will be crucial for ensuring that the benefits of molecular genetics are safely and equitably realized for all.

In this Special Issue, the following types of articles are welcome: original research articles, reviews and systematic reviews, communications, opinions, and perspectives.

We look forward to receiving your contributions.

Prof. Dr. Darko Katalinić
Guest Editor

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Keywords

  • molecular genetics
  • genetic diseases
  • genetic therapy

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Published Papers (1 paper)

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Research

20 pages, 9720 KB  
Article
Prenatal Low Testosterone Levels Induced by DNAH8 Dysfunction Leads to Urethral Fusion and Male Differentiation Abnormalities
by Zhiwei Peng, Yao Li, Yaping Wang, Mingming Yu, Yiqing Lyu, Fang Chen, Yichen Huang and Yu Ding
Biomedicines 2025, 13(12), 3032; https://doi.org/10.3390/biomedicines13123032 - 10 Dec 2025
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Abstract
Background: Hypospadias development is influenced by prenatal androgen levels, with genetic factors typically playing a significant role. Through whole-exome sequencing, we found that rare damaging variants in DNAH8 (dynein axonemal heavy chain 8) were significantly enriched in hypospadias cases. However, the role of [...] Read more.
Background: Hypospadias development is influenced by prenatal androgen levels, with genetic factors typically playing a significant role. Through whole-exome sequencing, we found that rare damaging variants in DNAH8 (dynein axonemal heavy chain 8) were significantly enriched in hypospadias cases. However, the role of DNAH8 deficiency in hypospadias pathogenesis remains unclear. Objectives: This study aimed to clarify the function of DNAH8 in urethral development and fusion. Materials and Methods: Using CRISPR/Cas9, we generated DNAH8 knockout mice and employed a multi-disciplinary approach to evaluate urogenital development, male differentiation, testosterone levels, steroid biosynthesis gene expression, and cellular changes in fetal testes and external genitalia. Results:DNAH8 knockout mice presented abnormal masculinization phenotype, and fetal mice exhibited urethral fusion defects and hypoplastic glans during early urethral development. DNAH8 knockout was found to reduce prenatal testosterone levels and steroid biosynthesis in the testes. Based on single-cell sequencing and multicolor immunofluorescence, we demonstrated that in the early stage of fetal testis development, the loss of DNAH8 function affected the differentiation of Sertoli and steroidogenic cell lineages, thereby impairing testosterone synthesis ability during the masculinization programming window. Meanwhile, we identified two key distal glans cell populations that cause abnormal urethral fusion and hypoplastic glans. Furthermore, DNAH8 knockout could synergistically interact with low-dose endocrine-disrupting chemicals, increasing the incidence of urethral fusion defects at E16.5, and led to clear hypospadias phenotypes at E18.5. Conclusions: Loss of DNAH8 delays differentiation of Sertoli and steroidogenic lineages, reduces prenatal testosterone, and, with environmental exposure, increases hypospadias risk. Full article
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