Emerging plant pathogens are threat to global food security. Plant pathogens are rapidly spreading due to increasing globalization, agricultural intensification and rapidly changing climatic conditions. These emerging pathogens are rapidly adapting to overcome host resistance. Therefore, necessitating the development of sustainable disease management strategies. Breeding for resistance is an important approach for sustainable disease management. The advancement in molecular genetics, genomics, and biotechnology have revolutionized the field of breeding for resistance. Precise incorporation of resistant genes into elite cultivars has been possible due to advanced breeding techniques such as Marker-assisted selection, genomic selection, and genome editing tools. However, there are still several challenges in plant breeding. The development of resistant varieties is further complicated by public perception and regulatory hurdles surrounding genetically modified crops. However, using integrated pest management such as resistant varieties along with cultural, biological and chemical control methods can enhance the durability of resistance. The development of resilient crop varieties has been possible with Advances in omics technologies, high-throughput phenotyping, and pathogen detection methods. Besides the development of resilient variety, it is essential to deliver resistant varieties to farmers. International collaboration, open-access breeding networks, and public-private partnerships play important role in delivering the resistant varieties to farmers. Resistance breeding needs to be proactive to face the challenges of emerging plant pathogens and global food security. This review highlights the factors causing spread of emerging plant pathogens, discuss modern approaches, key challenges and future direction of resistant breeding.

The wool of sheep consists of structurally intricate natural fibres that can be processed and manufactured into a range of products. It is prized for its insulation, moisture-buffering capability, flame resistance, and biodegradability. These features arise from its unique fibre architecture and specialised protein composition, which set it apart from most other natural and synthetic fibres. However, despite these novel characteristics, wool fibre variation hampers its uses and reduces its ability to compete with other fibres. This review summarises our current knowledge of wool fibre biology. It begins with a description of wool's functional properties and performance attributes, then explores the structural foundations of these properties, the molecular basis of fibre trait variation, and prospects for improving fibre quality using genetic approaches. Particular attention is given to the wool keratin and keratin-associated protein genes, their spatiotemporal expression patterns, and genetic polymorphism that may influence fibre characteristics. Opportunities for the genetic improvement of sheep are discussed, including the use of genetic modification and marker-assisted selection. Challenges in interpreting gene-trait associations, particularly from high-throughput omics studies, are highlighted, along with the need for functionally validated genetic markers. Potential trade-offs between wool characteristics and other production and reproductive traits are considered, emphasising the need for balanced breeding approaches. By integrating insights from structural biology, molecular genetics, and breeding strategies, this review provides a foundation for wool fibre improvement.

Research-based course design is beneficial to both the instructor and the students by providing project ownership, independence, increased engagement, and publishable results. Paramecium, a single-celled eukaryote, is a common organism observed in many high school and college classrooms that can be easily cultured and manipulated to navigate through guided student-driven research projects. Presented here are research-centered student projects that include designing and creating an RNA interference (RNAi) plasmid to deplete a gene product in Paramecium. Because RNAi can be used in a large number of model organisms, the techniques presented can be applied in a variety of ways. Using Paramecium, this advanced genetics class uses control and depleted cells to observe changes in cell morphology, cell swimming behavior, and changes in RNA transcript levels. Here, we will describe the use of database searches, primer and construct design, plasmid generation, subcloning, and bacterial screening to generate an RNAi construct and deplete targeted transcript levels. Student data showing the depletion of potential IFT38/40, IFT140, and KATNIP gene products in Paramecium are shared, and these depleted cells show significantly slower swimming speeds with no noticeable change in cell morphology. Overall, students are engaged, invested in their results, and successfully work as collaborative pairs to produce publishable results using this ciliated protist, all while learning cutting-edge molecular techniques.

The Andes arguably contains the most important biodiversity hot spot (Tropical Andes) in the world and is home to the only extant bear (spectacled bear, Tremarctos ornatus), in South America. Two molecular population genetics studies of the spectacled bear were recently carried out in Ecuador. However, these studies had contradictory results, which could hinder the development of an adequate conservation program for this species. To resolve this issue, we analyzed three molecular data sets representing a broad geographical sampling effort. The sets included six mitochondrial (mt) genes of 127 specimens, complete mitogenomes of 43 specimens, and seven nuclear DNA microsatellites of 88 specimens. The main results were as follows. (1) The mt genetic diversity levels obtained for the six mt gene data set were high and identical to the estimates of the two previous studies regardless of whether specific mt primers for this species were used. (2) The analysis of the six mt genes and mitogenome data revealed genetic heterogeneity among the spectacled bear samples of different Ecuadorian provinces, including significant heterogeneity between the northernmost and southernmost Ecuadorian areas. However, this heterogeneity is relatively small. (3) The genetic diversity levels with heterologous microsatellites were undifferentiable from the genetic levels reported with homologous microsatellites in a previous study. (4) Analysis of the microsatellite data set indicated a more significant spatial structure than previously reported. Up to seven different genetic clusters were detected but mixed in different areas of Ecuador. However, when they were analyzed at the province level only one unique genetic cluster was supported. (5) Based on these data, we suggest a single management plan for the entire spectacled bear population in Ecuador rather than a different management plan for each small spectacled bear population as suggested elsewhere.Supplementary InformationThe online version contains supplementary material available at 10.1038/s41598-025-17839-9.

Abstract Acute myeloid leukemia (AML) is a heterogeneous disorder characterized by the proliferation of myeloid progenitor cells infiltrating the bone marrow. Myeloid sarcoma is an extramedullary malignancy that can occur in soft tissue, bone, lymph nodes however CNS involvement is rare. 68-year-old female with past medical history of breast cancer s/p left-sided mastectomy in 2014 and tamoxifen therapy for seven years that presented to the ED for altered mental status, and headache that was ongoing for the past several days with associated significant weight loss, and easy bruising. CT brain revealed stable late subacute to chronic bilateral subdural hematomas with small area of more recent hemorrhage on the left; left to right shift of 2mm noted. MRI brain revealed bilateral subdural fluid collection; mass effect from larger left collection resulting in rightward midline shift of 3mm. Significant labs was noted for a leukocytosis 73,000, normochromic normocytic anemia, thrombocytopenia, and elevation of immature cells of promyelocytes myelocytes, metamyelocytes, and blasts. Flow cytometry revealed leukocytosis with blasts greater than 40% consistent with AML. Bone marrow aspirate revealed AML, non-M3. Molecular genetics revealed FLT3-ITD negative. Cytogenetics revealed abnormal karyotype with Trisomy 8. Over the patient’s hospital course, the patient became progressively obtunded. Repeat imaging showed stable size of bilateral subdural hemorrhages with a stable mass effect but increased cerebral edema and crowding of the basilar cisterns. Neurosurgery emergently performed a right parietal burr hole with evacuation of the chronic subdural hematoma and placement of a subdural drain. During the procedure, a left parietal craniotomy had to also be performed after an extra-axial parietal mass was incidentally found. Pathology of the brain mass revealed acute myeloid leukemia. The patient was transferred to a tertiary care center for plans of induction chemotherapy. Intracranial myeloid sarcoma is a rare manifestation of AML with an incidence of 0.4%. Oftentimes intracranial myeloid sarcoma is detected during routine CT/MRI studies given acute neurological symptoms. However in our case, initial imaging showed the acute subdural hematomas, and the mass was found incidentally during surgery. Risk factors associated with AML include genetic disorders such as Trisomy 8 which is found from cytogenetic testing. Trisomy 8 is one of the most common cytogenetic alterations found in patients’s with AML due to the association with mutations in DNA methylation causing a stronger predisposition to the pathogenesis of leukemia with a reported frequency noted to be between 10-15%. It has been noted that the prognosis of Trisomy 8 with AML has a shorter median overall survival, and is classified as an intermediate risk AML. Treatment includes surgical intervention to relieve the mass effect, and also aides with the histopathologic diagnosis. In addition the use of adjuvant radiotherapy or chemotherapy significantly reduced mortality. Citation Format: Bianca Vahia, Ram Hirpara, Danilo Frias, Ahmed Behairy. A case of intracranial myeloid sarcoma discovered after a subdural hematoma [abstract]. In: Proceedings of the 18th AACR Conference on the Science of Cancer Health Disparities; 2025 Sep 18-21; Baltimore, MD. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2025;34(9 Suppl):Abstract nr C082.

The brain has a remarkable ability to adapt its function in response to both environmental and internal cues. The cellular composition of the brain is largely static after birth; thus, persistent experience-dependent changes in brain function depend on altered programs of gene expression that result in the plasticity of circuit connectivity and network function. High-throughput sequencing studies have comprehensively cataloged stimulus-dependent programs of gene expression in the brain. The current challenge is to integrate this information in the context of specific cells and circuits to understand the mechanisms by which transcriptional regulation coordinates adaptive plasticity of the brain and behavior. Here, I review molecular genetics studies that reveal how neuronal activity-regulated gene products orchestrate intricate cellular and intercellular adaptations in response to changes in patterns of brain activity. I also discuss examples of genetic mutations that impair experience-dependent transcriptional plasticity in the context of neurodevelopmental disorders.

The routine transformation and genetic modification of many plant species other than Arabidopsis thaliana is still an arduous task. In many cases, it is necessary to use special tissues or conditions performed under sterile tissue culture conditions. Nevertheless, this approach is often the most expedient one, and streamlining protocols to maximize efficiency and minimize effort without sacrificing quality is paramount to today’s research agendas. The Solanaceae family tends to be amicable to tissue culture and relatively easy to transform. Here, we present our optimized, routine tissue culture protocols for the transformation of Nicotiana benthamiana, Nicotiana tabacum, Solanum tuberosum (potato), and Solanum lycopersicum (tomato). We highlight their commonalities and their differences, thus giving the researcher a framework for optimizing their own protocols in their laboratory if needed. Tissue culture transformation is still an important and dynamic field for the advancement of plant research in molecular genetics, physiology, and plant pathology, and will continue to be a viable and important resource into the future.

PRDM16 has been identified as a potential causal gene for cardiomyopathies, supported by reports of several cases associated with loss-of-function (LoF) variants in PRDM16. In this multi-centric study, we present the largest cohort to date of dilated cardiomyopathy (DCM) patients harboring PRDM16 LoF variants, including eleven previously unreported cases. Genetic testing was conducted by three French molecular genetics laboratories (Hôpital Européen Georges Pompidou, Lyon and Nantes) on 4900 index cases with DCM and/or hypertrabeculation using targeted next-generation sequencing. The gene panel included all coding and flanking intronic regions of 59 genes, including PRDM16 (NM_022114.4). In nine families, heterozygous LoF variants were detected in 11 cardiomyopathy patients. These variants included 2 deletions encompassing the entire gene, 1 multi-exonic deletion, 3 frameshift variants, 2 nonsense, and 1 splice-site variant. At diagnosis, the median age was 18.5years for females and 49years for males. Ten patients presented with DCM and 6 with hypertrabeculation. Follow-up data were available for five patients, with an average duration of 11years. Four patients showed an improvement in their ejection fraction. Notably, females, mainly pediatric cases, appeared to have a poorer prognosis. This study supports the hypothesis that haploinsufficiency of PRDM16 is involved in cardiomyopathy, with females exhibiting a more severe phenotype and earlier onset. Although PRDM16 is not currently included in the standard gene panel for cardiomyopathies, we propose that it be systematically screened in cases of DCM or symptomatic cardiac hypertrabeculation. KEY MESSAGES: PRDM16 haploinsufficiency leads to dilated cardiomyopathy and hypertrabeculation. More severe phenotypes and earlier disease onset are observed in females with PRDM16 haploinsufficiency. PRDM16 should be added to the gene panels used in genetic screening for cardiomyopathy.

ABSTRACT Objective Restocking nonnative strains of Brown Trout Salmo trutta into native Marble Trout S. marmoratus habitats has caused hybridization and a demographic decline in wild populations of the endemic species. To address this, genetic characterization of Marble Trout breeders is vital for selecting individuals for reproductive strategies. Integration of genetic analyses with sperm cryopreservation further enhances broodstock quality. Methods In this study, a morphocellular evaluation was conducted to create a live gene bank of breeders for maintaining high-quality offspring production. A total of 229 Marble Trout males from three river basins (Adige, Brenta, and Piave rivers) were sampled at Veneto regional hatcheries in northern Italy. Genetic differentiation among populations was confirmed using a mitochondrial marker (mitochondrial DNA control region [D-loop]) and nuclear markers (lactate dehydrogenase gene LDH-C1* and microsatellites). Fertility parameters, including sperm motility and concentration, were monitored during the reproductive season (November–February) to select high-quality milt for cryopreservation. Results Results showed that 65.49% of samples had high sperm motility throughout the season. Fewer cases of asthenozoospermia occurred mid-season (December–January) compared to the start or end of the season. Average sperm concentration was 14.95 × 10⁹ cells/mL. Conclusions Cryopreserved semen from genetically diverse Marble Trout breeders was used for artificial fertilizations. This combined approach of molecular genetics and innovative cryotechnology supports conservation efforts for Marble Trout and highlights its potential for managing endangered populations effectively.

Pompe disease, a rare autosomal recessive lysosomal storage disorder, results from mutations in the GAA gene that lead to deficient acid alpha-glucosidase activity and glycogen accumulation in various tissues. This review employs the diagnostic approach to the disease, encompassing enzymatic assays and molecular genetics, with a focus on genotype-phenotype correlations and regionspecific mutations. Over 500 mutations in the GAA gene, including missense, nonsense, insertions, deletions, and splicing defects, contribute to varying levels of enzyme deficiency, accounting for the diverse clinical manifestations of Pompe disease. Current therapies, including Enzyme replacement therapy (ERT), are the cornerstone treatments for Pompe disease, utilizing recombinant human alpha-glucosidase to restore enzyme activity and reduce glycogen accumulation in lysosomes. While ERT significantly improves survival, cardiomyopathy, and respiratory function, its limited uptake in skeletal muscle and immunogenicity pose challenges. Innovations include immune tolerance protocols and nextgeneration enzymes to enhance skeletal muscle delivery. Gene therapy emerges as a promising alternative, leveraging viral vectors to deliver functional GAA genes, thereby enabling sustained endogenous enzyme production and addressing limitations of ERT. Preclinical and early-phase trials demonstrate efficacy, reduced immunogenicity, and enhanced skeletal muscle uptake; however, challenges, such as vector immunogenicity and cost, remain. Thus, genetic counseling is essential for family planning and managing emotional and psychosocial challenges related to this disease. This article highlights advances and challenges in the diagnosis, management, and treatment of Pompe disease, providing a comprehensive resource for clinicians and researchers.

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.

Persulfidation of host NADPH oxidase RbohB by rhizobial 3-mercaptopyruvate sulfurtransferase maintains redox homeostasis and promotes symbiotic nodulation in soybean.