Post di Giorgio Maria Caudullo

D3 Array™-UTI is a fast multiplexed testing solution for urinary pathogen detection run simultaneously with antibiotic resistance gene markers. This novel highly multiplexed UTI assay provides a scalable, low cost solution in a single test with results in under 6.5 hours. Learn more @ https://lnkd.in/gWkkxQQT

The p53 gene "Guardian of the Genome" The p53 gene, often referred to as the "guardian of the genome," plays a crucial role in regulating numerous biological functions, including cell cycle control, DNA repair, apoptosis (programmed cell death), senescence, and genomic stability. Interactions between the p53 gene and other genes are intricate and multifaceted, contributing to the coordination of these vital cellular processes. Here's a description of some key interactions: Cell Cycle Regulation: p53 interacts with various genes involved in cell cycle regulation, such as cyclin-dependent kinase inhibitors (e.g., p21) and cyclins. These interactions modulate the progression of the cell cycle, allowing for repair of damaged DNA or initiation of apoptosis if the damage is irreparable. DNA Repair Pathways: p53 participates in the activation of genes involved in DNA repair mechanisms, such as those encoding for enzymes involved in base excision repair, nucleotide excision repair, and homologous recombination. By promoting DNA repair, p53 helps maintain genomic integrity and prevents the accumulation of mutations. Apoptosis: In response to severe DNA damage or other cellular stresses, p53 activates the expression of pro-apoptotic genes (e.g., Bax, Puma) and represses anti-apoptotic genes (e.g., Bcl-2). This interaction triggers the apoptotic pathway, leading to the elimination of damaged or potentially harmful cells. Senescence: p53 induces cellular senescence by upregulating the expression of genes involved in the senescence-associated secretory phenotype (SASP). These genes promote the secretion of various factors that reinforce cell cycle arrest and contribute to the establishment of a senescent phenotype. Metabolism: p53 influences metabolic pathways by regulating the expression of genes involved in glucose metabolism (e.g., GLUT1, TP53-induced glycolysis and apoptosis regulator - TIGAR), lipid metabolism, and mitochondrial function. These interactions help to maintain cellular energy homeostasis and redox balance. Angiogenesis and Metastasis: p53 can regulate the expression of genes involved in angiogenesis (e.g., VEGF) and metastasis (e.g., MMP-2, MMP-9), thereby affecting tumor progression and invasion. Immune Response: p53 modulates the expression of genes involved in the immune response, including cytokines, chemokines, and immune checkpoint regulators. These interactions influence the tumor microenvironment and immune surveillance against cancer cells. 

🌐 Discover the Power of "All-in-One" Sequencing with the DNBSEQ-T7!   🧬What if your platform could explore beyond the genome? With the DNBSEQ-T7, we’re pushing the boundaries of multi-omics research, delivering genomics, proteomics, and spatial transcriptomics data - all from one powerful, versatile system. The DNBSEQ-T7 provides researchers with an integrated solution to unlock deeper biological insights faster, making it possible to go beyond traditional genomics. Whether you're mapping genetic mutations, profiling proteins, or exploring spatial gene expression, our platform is built to meet your research demands. 💟   Join us in transforming the future of discovery and innovation! Explore more here: https://lnkd.in/g6N8PvYn   #MultiOmics #DNBSEQT7 #Genomics #Proteomics #SpatialTranscriptomics

🚀 We are excited to share some of the activities from our Pathfinder Challenge #IMPACT, which aims to revolutionize how we understand and treat Arrhythmogenic Cardiomyopathy (ACM). 🧬❤️ 🔍 The objectives of one of our Work Packages is to improve ACM patient stratification by determining the contribution of Variants of Unknown Significance (VUS) 🔬 Our current efforts involve: ✅ Functional classification of VUS: using cutting-edge gene editing techniques, we aim to generate allelic series of human induced pluripotent stem cells (hiPSCs) containing at least 12 VUS in PKP2, a primary gene associated with ACM. ✅ STRAIGHT-IN approach: this novel method allows us to simultaneously generate over 12 hiPSC lines with different mutations, leveraging an established control hiPSC line known for its excellent differentiation capacity and stable karyotype. ✅ In vitro cardiac organoids: since ACM manifests postnatally, we use hiPSCs to create cardiac organoids, enabling the maturation of hiPSC-derived cardiomyocytes to post-natal levels. This comprehensive approach will enable us to classify VUS as malignant or benign more accurately than existing computational and population-based methods. 🌟 We continue to advance our understanding of ACM and work towards better, more personalized treatments. 💡🔬 Be a part of our journey and follow us! Stay tuned and visit our website https://lnkd.in/dZv23Xku for more!

𝗪𝗘𝗦 𝘄𝗶𝗻𝘀 𝗼𝘃𝗲𝗿 𝗪𝗚𝗦 𝗶𝗻 𝗮 𝗰𝗹𝗶𝗻𝗶𝗰𝗮𝗹 𝘀𝗲𝘁𝘁𝗶𝗻𝗴 Some publications on whole genome sequencing (WGS) attempted to show its superiority over whole exome sequencing (WES) in genetic diagnostics. After reanalyzing such publications, we found that whole exome sequencing delivers better results. Here is why: • 𝗪𝗚𝗦 𝗶𝗺𝗽𝗿𝗼𝘃𝗲𝗺𝗲𝗻𝘁𝘀 𝗮𝗿𝗲 𝗼𝘃𝗲𝗿𝗿𝗮𝘁𝗲𝗱, as they are based on comparisons with outdated WES methods. • 𝗠𝗼𝗿𝗲 𝗱𝗮𝘁𝗮 𝗱𝗼𝗲𝘀𝗻’𝘁 𝗮𝗹𝘄𝗮𝘆𝘀 𝗺𝗲𝗮𝗻 𝗯𝗲𝘁𝘁𝗲𝗿 𝗿𝗲𝘀𝘂𝗹𝘁𝘀: most WGS findings turn out to be variants of uncertain significance. • 𝗖𝘂𝘀𝘁𝗼𝗺𝗶𝘇𝗲𝗱 𝗮𝗻𝗱 𝗵𝗶𝗴𝗵-𝗾𝘂𝗮𝗹𝗶𝘁𝘆 𝗪𝗘𝗦 (𝗹𝗶𝗸𝗲 𝗼𝘂𝗿 𝗘𝘅𝗼𝗺𝗲𝗫𝘁𝗿𝗮®) 𝗶𝘀 𝗮𝗻 𝘂𝗻𝗯𝗲𝗮𝘁𝗮𝗯𝗹𝗲 𝗰𝗼𝗺𝗯𝗶𝗻𝗮𝘁𝗶𝗼𝗻 of cost efficiency and diagnostic precision. To put it in a nutshell: High-quality WES is the smarter choice for clinical diagnostics. Find more information here: https://lnkd.in/ecBpwW9u #genetics #diagnostics #WGS #WES #exome #exomextra #exomediagnostics #science

CeGaT introduces Deep Immunogenetics (DIG), a new diagnostic service developed specifically for detecting low-frequency somatic mosaic variants in immune disorders. Low-frequency somatic mosaic variants (5% allele frequency or even less) can trigger immune disorders. These variants often remain undetected in standard NGS approaches such as panel, exome, and especially genome sequencing. CeGaT’s Deep Immunogenetics (DIG) specifically enriches 337 immune disorder genes. These genes are sequenced with a coverage of approx. 1,000x, i.e., 10 times higher than a standard exome (100x) and more than 30 times higher than a standard genome (30x). This deep sequencing enables the detection of low-frequency somatic mosaic variants. Learn more by reading our news text: https://lnkd.in/eAhbcKAM #genetics #diagnostics #sequencing #immunesystem #immunedisorders #rarediseases #news

📑 Read our latest case study and testimonial from Dr. Olena Kis, Director of Molecular Pathology at Henry Ford Health Systems: "Implementing comprehensive clinical exome analysis to support diverse applications at Henry Ford Health". 🚀 Discover how Henry Ford Health streamlined its genetic testing by moving from three separate assays to a single, powerful exome-based solution. Learn how the SOPHiA DDM™ Exome Solution v3 consolidated their workflows for hereditary cancer, cystic fibrosis, and pharmacogenetics, offering broad gene coverage with a compact assay footprint. ➡️ Dive into the full story to see how this innovative approach enabled the detection of SNVs, Indels, and CNVs in one comprehensive assay, simplifying their germline testing processes: https://lnkd.in/gKqEcSRa #HenryFordHealth #Genomics #ExomeAnalysis #GeneticTesting #DataDrivenMedicine #CustomerTestimonial

💡 The SOPHiA DDM™ Platform reliably calls and prioritizes variants, turning complex and noisy genomic data sets from exome sequencing into valuable insights for data-driven decision-making.  Why choose the SOPHiA DDM™ Platform for exome analysis? ➡ All-in-one solution: Consolidate your workflows with the SOPHiA DDMTM Clinical and Whole Exome Solutions, with rare disease, hereditary cancer, and Pharmacogenomics applications and more! ➡ Universal: The SOPHiA DDM™ Platform is technology-agnostic for simple integration into existing workflows with any top exome enrichment chemistry, emerging sequencers, and liquid handlers. ➡ Integrated: SOPHiA DDM™ Integrated Access Mode lets you tap into certified sequencing partners who generate sequencing data and securely upload it to your SOPHiA DDM™ account for analysis and reporting, while you maintain full ownership of all data. ➡ Enhanced Tertiary Capabilities: Advanced filtering and AI-powered variant prioritization Interested to know more? 🔗 Explore the power of the SOPHiA DDM™ Platform for exome analysis: https://lnkd.in/gY585wtp #DataDrivenMedicine #ExomeAnalysis #AIforHealthcare