Introduction:Accurate identification of the genetic cause of inherited hyperhomocysteinemia (HHcy) is essential for targeted therapies and individualized treatment. However, reported cases in China remain limited. In this study, we investigated the clinical and molecular genetic characteristics of HHcy in Chinese children/adolescents.MethodsBetween 2021 and 2024, eight children/adolescents with inherited HHcy were identified at a tertiary hospital. The patients' clinical presentations, biochemical findings, and genetic profiles were analyzed.ResultsEight Chinese patients exhibited elevated plasma total homocysteine (tHcy) levels (85.7–227.2 μmol/L). These patients revealed 11 variants across 3 genes, including 2 novel variants and 9 previously reported pathogenic variants. All patients were compound heterozygotes. Six patients (P1–6) were diagnosed with cystathionine β-synthase (CBS) deficiency, with seven CBS variants identified. Among these, one novel frameshift variant (c.860del) was detected. Major clinical manifestations included marfanoid features, lens dislocation, myopia, mild developmental delay, osteoporosis, epilepsy, and cerebral venous sinus thrombosis, with ectopia lentis or myopia as common early signs (ages 4–6 years). One child had methylenetetrahydrofolate reductase deficiency, with two variants (c.1632+2T>G, c.1552C>T) and the variant c.1552C>T was novel. The patient displayed developmental delays, microcephaly, and status epilepticus. One child (P8) showed elevated tHHcy and urine methylmalonic acid levels, attributed to cobalamin C deficiency caused by MMACHC variants (c.482G>A, c.609G>A). He presented with epilepsy, weakness in both lower limbs, cognitive dysfunction, and urinary incontinence. Comprehensive interventions including dietary and pharmacological therapies, significantly reduced tHHcy levels in most cases.DiscussionElevated tHcy is an important biomarker for inherited HHcy. Genetic testing is crucial for precise diagnosis, therapy initiation, and genetic counseling. Two novel pathogenic variants were identified, enriching the variant spectrum for inherited HHcy.

GNE myopathy is an autosomal recessive distal myopathy resulting from biallelic pathogenic variants in the GNE gene, a key enzyme in sialic acid biosynthesis. Although most pathogenic variants are missense variants, recent advances have enabled the identification of copy number variations, deep intronic variants, and regulatory changes in the promoter region, significantly enhancing diagnostic accuracy. Progress in genetic diagnostics now allows detection of rare and complex variants. Studies of founder variants in specific populations have clarified that certain GNE genotypes are associated with distinct clinical features and disease progression, deepening our understanding of genotype-phenotype relationships in GNE myopathy. The development of approved therapies, such as aceneuramic acid extended-release tablets, as well as ongoing multicenter Phase 2 trials of ManNAc and promising pilot studies of 6'-sialyllactose, underscore the importance of timely and comprehensive genetic diagnosis. Additional approaches, including antioxidant and gene therapies, are also under investigation. Since genetic testing is currently the sole definitive diagnostic approach, continued efforts to identify challenging or novel variants are essential to ensure all affected individuals receive an accurate diagnosis and access to emerging therapies. Advances in molecular genetics and diagnostics are paving the way for precision medicine and improved outcomes in GNE myopathy.

Gene editing technology is a revolutionary biotechnology that has shown great potential and advantages in crop breeding. Current research has proposed many technical methods and design schemes for gene editing technology in crop breeding. However, summarization and analysis are often based on the research and application of a certain technology, lacking a literature content mining perspective to summarize and analyze the application of gene editing and other technologies in crop breeding. At the same time, there is insufficient identification of future research and innovation opportunities of gene editing technology in crop breeding. This study utilized natural language processing, deep learning, and generative topographic mapping (GTM) to conduct an in-depth analysis of the literature on gene editing technology in crop breeding from the perspective of literature mining. Key technical terms in this field were identified, a literature technical map was constructed, technical blank points were identified, and innovative opportunities for blank technology combinations were analyzed. The results showed that from the literature data from 2020 to 2024, 13 technology combinations were identified. These technical contents cover the multi-technology combination strategy of molecular genetic research, the core technology of gene function research in molecular genetics of biotic and abiotic stresses, the technical means of analyzing the molecular mechanisms of stress resistance, the technical scheme of genetic improvement, etc., which provide support for revealing the potential technological innovation opportunities of gene editing technology in the field of crop breeding. This study can scientifically, objectively, and efficiently identify technological innovation opportunities from the literature. Based on the research results, future research should carry out experimental research and application exploration so as to support the application and technological innovation of gene editing technology in crop breeding.

Pharmacogenetic implementation requires awareness of the state-of-the-art practice of laboratories providing pharmacogenetic testing. This study investigated how pharmacogenetic guidelines and recommendations have been implemented over time by Italian laboratories participating in the external quality assessment (EQA) Pharmaco-scheme established since 2019 by the European Molecular genetics Quality Network (EMQN). Anonymized clinical pharmacogenetic reports submitted by Italian laboratories participating in the EMQN Pharmaco-scheme between 2019 and 2023 were analysed. A total of 88 reports addressing fluoropyrimidine/DPYD and irinotecan/UGT1A1 drug-gene interactions were evaluated for genotyping panel adopted and methodology, referenced guidelines and accuracy of clinical interpretation. Over the 5-year period, Italian laboratories accounted for 45% of all European submissions. The adoption of DPYD and UGT1A1 testing increased significantly, with the use of the Italian Society of Pharmacology - Italian Association of Medical Oncology (SIF-AIOM) genotyping panel rising from 0% in 2019 to 97% in 2023. The proportion of laboratories providing accurate clinical interpretations in line with at least one major guideline (the Clinical Pharmacogenetics Implementation Consortium, the Dutch Pharmacogenomics Working Group or SIF-AIOM) increased from 34% in 2021 to 63% in 2023. Notably, only the SIF-AIOM guidelines recommend testing for the DPYD*6 variant in a reactive setting. However, clearer guidance is needed to avoid the risk of undertreatment in these patients. Allelic discrimination emerged as the preferred genotyping method, particularly with the widespread adoption of commercial European Union-marked in vitro diagnostic kits. This study provides a snapshot of pharmacogenetic testing practices in Italian laboratories participating in an EQA programme. It highlights an encouraging trend toward improved accuracy and guideline adherence, reflecting increasing awareness and harmonization in clinical pharmacogenetic practice.

Advances in molecular genetics and the development of new technologies for working with genes determine the beginning of a new era - gene therapy is becoming an important area of medicine, including audiology and otolaryngology. Today, the innovative therapeutic solutions for inner ear disorders have been developed and some gene therapy programs of the inner ear are already undergoing clinical trials. The purpose of our article is to show the current state of the gene therapy in the inner ear research, this most serious and complex area, located at the intersection of science and practice. To learn how to use new opportunities, it is necessary to raise awareness among doctors and patients about hereditary hearing loss. While clinical trial protocols are being improved, it is necessary to develop more reliable clinical diagnostic tools for the early detection of hereditary hearing loss and especially auditory neuropathy spectrum disorders.

Osteosarcoma.

Pharmacogenomics in cardiac therapy: Personalizing treatment for heart health.

Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.

Mating duration of male Drosophila melanogaster - A novel genetic model to study interval timing function of human brain.

Alzheimer's disease (AD), the most common cause of dementia, is marked by the pathological accumulation of misfolded proteins in the brain. Its key pathological features include extracellular amyloid β (Aβ) plaques and intracellular tau neurofibrillary tangles, both of which contribute to synaptic dysfunction and neuronal death. Familial AD is linked to mutations in the APP, PSEN1, or PSEN2 genes, which promote increased Aβ production or aggregation. In contrast, frontotemporal dementia (FTD), including FTDP-17, is associated with MAPT mutations that lead to tau fibril accumulation independent of Aβ pathology. Recent advances in cryo-electron microscopy (cryo-EM) have revealed disease-specific conformations of Aβ and tau fibrils at atomic resolution, highlighting the role of structural polymorphism in disease progression. Aβ contributes to synaptic deficits and activates glial cells, thereby initiating neuroinflammatory responses. Genetic risk factors such as APOE and TREM2 influence these pathological processes. Transgenic mouse models carrying familial mutations have replicated certain aspects of AD pathology. However, most models fail to fully reproduce the human-like filament structures or the sequential progression from Aβ to tau pathology. Novel knock-in models, combined with cryo-EM-based validation, now provide a more accurate platform for studying disease mechanisms and developing targeted therapies.

In the production of biomolecules of industrial interest, bioprocesses must ensure economic viability and sustainability. However, in biochemical or biotechnology academic programs, there seems to be a lack of integrated approaches to holistic bioprocess design. Currently, there is a strong emphasis on molecular biology, genetics, or derived technologies, overlooking aspects such as lab-scale production, purification strategies suited for a given biomolecule, and cost evaluation for large-scale production processes. This study proposes a comprehensive approach to bioprocess development for undergraduate education. It includes fundamental molecular biology and genetics for producing a genetically modified Escherichia coli strain, upstream and bioreactor technology, downstream technologies tailored to biomolecule characteristics, and economic evaluation. This article details educational strategies centered around a collaborative project for recombinant protein production (chromoproteins), implemented and assessed through various Biotechnology Engineering courses. The findings show that students gained a comprehensive understanding of chromoproteins production at the lab scale. They made significant progress in acquiring technical skills in molecular biology, genetic engineering, and biomolecule production goals, as well as estimating bioreactor scales and selecting and calculating upstream and downstream processes based on lab-scale data. Integrating specialized software tools such as Benchling for recombinant technology, MATLAB for unitary processes modeling, and SuperPro Designer for economic and technical studies significantly enhanced student confidence and proficiency in evaluating and sizing bioprocesses for chromoprotein production. They also pointed out the importance of chromatographic processes in protein recovery. Overall, these holistic educational strategies facilitated a more profound skill acquisition, preparing students to thoroughly design and evaluate bioprocesses.

Exploring molecular genetics and gene editing approaches of peripheral neuropathies: A future treatment approach

Background. The study of the molecular mechanisms regulating gene expression in response tovarioustypes of stress in woody plants,particularlydrought and high soil salinity,is becominganecessary condition for breeding orcreatingnew resistant cultivars, forms, and hybrids withspecificeconomically valuabletraits.Currently, the extent and depth of studying the genes involved in drought and high soil salinity tolerance in woody plants is extremely low compared to agricultural crops, which significantly complicates and slows down the breeding process that should be based on achievements in molecular biology and genetics. Purpose. To summarize, describe, and select potential genes involved in the formation of drought and salt tolerance in a range of woody plants used in agroforestry and protective afforestation, growing in areas with arid and semi-arid climates. Materials and methods. To achieve the research objectives, more than250 scientific sources were reviewed and a search in open gene databases was conducted to identify genes and their homologues databases using the BLAST program associated with drought and salt tolerance in woody plants used in agroforestry and protective afforestation. Results. This study summarizes and describes 28 genes associated with drought tolerance and 14 genes associated with salt tolerance in the genera Quercusand Populus, and the families Fabaceae, Rosaceae, and Oleaceae. Conclusion. Thus, as a result of the analysis of genes associated with drought and salt tolerance in woody plants, key targets have been identified that can serve as a basis for molecular selection, followed by the identification of potential markers and their possible association with economically valuabletraits.

Toward DNA-based taxonomy of prokaryotes and microeukaryotes.

Hereditary forms of diabetes, including Maturity-Onset Diabetes of the Young (MODY) and Neonatal Diabetes Mellitus (NDM), are rare monogenic disorders caused by mutations in genes involved in pancreatic development, beta-cell function, and insulin secretion. Unlike the polygenic nature of type 1 and type 2 diabetes, these forms provide a unique model for precision medicine. A comprehensive literature review was conducted to explore the molecular genetics, clinical features, diagnostic advancements, and therapeutic strategies related to MODY and NDM. Particular focus was placed on genotype-phenotype correlations and responsiveness to targeted treatments. Distinct gene mutations such as GCK, HNF1A, and HNF4A in MODY, and KCNJ11, ABCC8, and INS in NDM are associated with specific clinical characteristics and treatment responses. Genetic testing plays a crucial role in early diagnosis and management. For instance, sulfonylurea therapy has effectively replaced insulin in some cases of NDMre with KATP channel mutations. In MODY, accurate genetic classification helps guide the use of oral hypoglycemics or dietary interventions instead of unnecessary insulin therapy. Understanding the genetic basis of MODY and NDM has enabled clinicians to personalize treatment plans, improving disease outcomes. Genetic diagnosis not only facilitates better classification but also informs prognosis and guides family screening. Despite these advances, challenges remain in access to testing and awareness among healthcare providers. Molecular insights into MODY and NDM have revolutionized their diagnosis and treatment. Gene-based therapeutic approaches enhance glycemic control and quality of life, marking a significant step toward precision medicine in diabetes care. Ongoing research will be key to further optimizing individualized treatment strategies.

Clonorchis sinensis, a parasitic liver fluke, is the primary aetiological agent of clonorchiasis, a disease predominantly characterized by liver-related clinical manifestations. Currently, research on the complete mitochondrial (mt) genome of local C. sinensis populations remains inadequate. Thus, in this study, we sequenced and annotated the mt genome of fish-borne C. sinensis (Cs-c2) from Changchun, Jilin Province, China, a strain not previously described. This mt genome is 14,136 bp in length and harbours 12 protein-coding genes (PCGs), 22 transfer RNAs (tRNAs), 2 ribosomal RNAs (rRNAs), and a single control region (CR). We constructed a maximum likelihood (ML) phylogenetic tree using concatenated ND5, ND6, and ND1 from protein-coding genes (PCGs) of the C. sinensis mitochondrial genome (mt genome). This tree more clearly differentiated C. sinensis strains from three geographical regions (China, Russia, and South Korea) and distinguished Opisthorchiidae from two closely related families (Fasciolidae and Dicrocoeliidae). Additionally, we constructed an ML phylogenetic tree using concatenated ND4, ND5, ND1, ND2, and COX1 from the PCGs of digenean (Digenea) mt genomes. This approach—utilizing multiple high-resolution PCGs with evolutionary rates distinct from those of the mt genome—yielded robust clustering for multiple suborders and 13 families within Digenea and provided new molecular evidence for intergeneric relationships within the suborder Plagiorchiata of Digenea. These findings serve as important references for future research on the differentiation of closely related geographical strains of digeneans, as well as for studies on molecular taxonomy and population genetics.

Background and Objectives: Laryngeal cancer is a common head and neck tumor burden, with no significant improvements in long term patient survival. Despite the progress of molecular genetics and oncology strategies, there is still a lack of biomarker use in routine clinical practice for early laryngeal cancer screening or diagnosis. miRNAs are explored as promising molecules, that could serve as liquid biopsy. Our goal is to explore the screening potential of miR-31-3p and miR-196a-5p in early- and advanced-stage laryngeal HPV-negative plasma samples. Methods: In this study, 50 plasma samples obtained from early and advanced HPV-negative laryngeal cancer patients were included. The expression levels of mir-31-3p and miR-196a-5p were analyzed via TaqMan RT-qPCR. SPSS v27.0 was used for statistical analysis. Results: For the first time, miR-31-3p and miR-196a-5p were analyzed in plasma samples from early HPV-negative primary LSCC patients. Both circulating miRNAs showed significantly elevated expression levels in early and advanced laryngeal cancer samples. miR-31-3p was significantly associated with T stages (p < 0.001) and N stages (p = 0.009). The ROC analysis revealed that miR-31-3p could significantly discriminate early-stage from advanced-stage LSCC with an AUC of 0.850 (95% CI: 0.743–0.956, p < 0.001) at an RQ cutoff of 2.03, achieving a sensitivity of 95.5% and a specificity of 64%. Nevertheless, miR-196a-5p was found to be significantly overexpressed in early-stage LSCC, which could contribute to the development of its screening potential. For the first time, both miRNAs revealed a significant positive correlation, which indicates that miR-31-3p and miR-196a-5p could coregulate cancerogenesis. Conclusions: In conclusion, the data revealed that miR-31-3p has greater potential as an LSCC screening marker in comparison to miR-196a-5p. Still, miR-196a-5p also showed promising results in early-stage laryngeal cancer monitoring. The utilization of circulating miR-31-3p or miR-196a-5p analysis could enable liquid biopsy approaches, with results potentially informing treatment monitoring strategies, personalized oncological protocols, and early diagnosis. These advancements could ultimately benefit patient outcomes by improving laryngeal organ preservation and survival rates.

Recent advances in molecular genetics have revolutionized the classification of pediatric-type high-grade gliomas in the 2021 World Health Organization central nervous system tumor classification. This narrative review synthesizes current evidence on the followingfour tumor types: diffuse midline glioma, H3 K27-altered; diffuse hemispheric glioma, H3 G34-mutant; diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype; and infant-type hemispheric glioma. We conducted a comprehensive literature search for articles published through January 2025. For each tumor type, we analyze characteristic clinical presentations, molecular alterations, conventional and advanced magnetic resonance imaging features, radiological-molecular correlations, and current therapeutic approaches. Emerging radiogenomic approaches utilizing artificial intelligence, including radiomics and deep learning, show promise in identifying imaging biomarkers that correlate with molecular features. This review highlights the importance of integrating radiological and molecular data for accurate diagnosis and treatment planning, while acknowledging limitations in current methodologies and the need for prospective validation in larger cohorts. Understanding these correlations is crucial for advancing personalized treatment strategies for these challenging tumors.

Introduction Emerging and re-emerging infectious diseases, particularly viral haemorrhagic fevers like Lassa fever, Ebola, and yellow fever, continue to challenge public health systems in West Africa. The COVID-19 pandemic caused significant global mortality but also advanced modern laboratory and clinical diagnostics, raising new research questions. The Molecular Genetics and Infectious Disease (MOGID) Research Laboratory at Abubakar Tafawa Balewa University Teaching Hospital (ATBUTH) in Bauchi, Nigeria, is an NCDC-optimized facility for RT-qPCR diagnostics of Lassa virus (LASV), SARS-CoV-2, Monkeypox (Mpox), and Varicella zoster virus (VZV). It serves Bauchi and neighbouring states including Borno, Gombe, Taraba, and Yobe. The laboratory plays a central role in surveillance, diagnostics, and outbreak response. To highlight the MOGID laboratory as a strategic centre for collaborative research and sustainable capacity building aimed at closing research and preparedness gaps for emerging and re-emerging pathogens in West Africa. Methods We conducted a descriptive assessment of the facility’s diagnostic capabilities, service coverage, and ongoing collaborations. Emphasis was placed on its integration with clinical services and potential for regional R&amp;D partnerships. Results The state’s surveillance activities have positioned the laboratory as a central link for service delivery in patient care and treatment outcomes. Through ongoing support from donors and national stakeholders, the laboratory has developed a strong foundation for collaborative scientific research, workforce development, and operational readiness for public health threats. Conclusion There is a great opportunity for collaborative research, data sharing, and the exchange of resources and expertise with other institutions and countries. Such partnerships can address research gaps and help shape sustainable strategies for the prevention of disease emergence. Our participation in collaborative research efforts will contribute significantly to the regional infectious disease research agenda and enhance preparedness for future outbreaks.

Acute myeloid leukemia (AML) is a biologically diverse disease that has undergone significant transformation in recent years. The rapid pace of discovery in molecular genetics, disease classification, and therapeutic development has reshaped how we approach diagnosis and treatment. This review aims to provide a timely and relevant synthesis of these advances, offering clinicians and researchers an updated perspective on AML as of 2025. The 2022 WHO and ICC classifications have shifted the diagnostic focus toward genetic alterations, allowing for more precise subtyping and personalized treatment decisions. Advances in molecular profiling have improved risk stratification and highlighted the importance of measurable residual disease (MRD) in guiding therapy. Targeted agents - such as fms-like tyrosine kinase 3 (FLT3), isocitrate dehydrogenase (IDH)1/2, and menin inhibitors - have broadened options for patients who are unfit for intensive chemotherapy or have relapsed disease. Postremission strategies are evolving, with increasing use of MRD-guided transplant decisions and maintenance therapies like sorafenib and oral azacitidine. While CAR-T cell therapy remains investigational in AML, early results are promising and support continued exploration. The integration of genomic insights with emerging therapies is transforming AML management. These developments are paving the way toward more personalized care, improved outcomes, and new opportunities for long-term disease control and cure.