Genomics, oncology, one-health approach, and precision medicine using next generation sequencing technologies

Traditional diagnostic methods in veterinary medicine often lack the ability to detect genetic variations and fully elucidate the pathogenesis of complex diseases, especially those involving rapidly evolving pathogens and genetic mutations. Next-Generation Sequencing (NGS) technologies have revolutionized the field by providing precise, high-throughput capabilities for disease diagnosis, pathogen identification, and genetic research. This thesis explores the application of NGS in improving diagnostic accuracy and developing precision medicine strategies across various veterinary conditions. Key studies include the analysis of gastrointestinal nematodes and microbiome diversity through metagenomics (16S rRNA sequencing), the identification of genetic mutations responsible for limb-girdle muscular dystrophy in Lagotto Romagnolo dogs, and, finally, the investigation of neoangiogenesis and biomarkers in canine urothelial carcinoma. Using metagenomic sequencing, we identified a diverse range of microbial taxa, shedding light on the complex interactions between gut microbiota and parasite load in equine gastrointestinal health. Whole Exome Sequencing (WES) uncovered genetic mutations linked to muscular dystrophy in dogs, facilitating early diagnosis and enabling potential therapeutic interventions. Additionally, the study of canine urothelial carcinoma revealed novel insights into neoangiogenesis and biomarker expression, offering new prognostic tools for treatment stratification. Collectively, these findings detailed the transformative potential of NGS in veterinary diagnostics, enabling more accurate disease identification, earlier therapeutic interventions, and enhanced understanding of host-pathogen interactions. Integrating advanced sequencing technologies into routine veterinary practice holds the promise of improving animal health, productivity, and genetic conservation, with broader implications for public health and food security.