Post di Ospedale San Raffaele

CeGaT now offers RNA-based gene expression analysis. In addition to CancerFusionRx®, the new option for gene expression analysis now complements our DNA-based CancerPrecision® service. Deviations in gene expression influence how a tumor develops and responds to treatment. That is why gene expression analysis offers additional information for diagnosis, prognosis, and personalized treatment. We identify deviations in gene expression by comparing a case’s results with our extensive in-house cohort of tumor transcriptomes, which has been built up over the last nine years. Discover more by reading our news text: https://lnkd.in/ewUhtim6 #genetics #tumordiagnostics #geneexpression #DNA #RNA #update

We are excited to introduce Spatial Transcriptome Sequencing – the perfect expansion of CeGaT's established Transcriptome Sequencing product portfolio. This cutting-edge method combines gene expression analysis with tissue morphology, allowing researchers to uncover the spatial organization of cells within their native tissue environments. Our products are available in two resolution modes (SD and HD) and support research in areas like • neurological disorders such as Alzheimer’s disease by uncovering cellular diversity and organization in brain tissues. • cancer research through spatial tumor profiling and exploration of tumor microenvironments. • hematopoiesis and tissue regeneration, enabling researchers to reconstruct complex developmental pathways. Find out how our Spatial Transcriptome Sequencing products advance your research's boundaries: https://lnkd.in/eBBtD-Kb #sequencing #transcriptome #research #science #news #STS

💡 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

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. 

📑 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

🚀 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!

🇨🇭 We are at #BiotechX Europe in Basel! Don’t miss the chance to meet the SOPHiA GENETICS team in person, and explore how we can partner to accelerate data-driven medicine. Our colleagues Guillaume Cettou and Loïc Dartois, MBA are at BiotechX - don't hesitate to reach out to them via the event's platform or directly on LinkedIn! Let’s push the boundaries of healthcare, together. See you there! BioTechX #BiotechX #PrecisionMedicine #AIinHealthcare #DataDrivenMedicine #Oncology

As many of you are likely aware, transcription factors have long been considered “undruggable” targets. While improved targeting approaches are beginning to change this, progress has been slow.    This is why I was excited to see the findings from a recent study in Nature Communications investigating the suppression of EVI1, the transcription factor involved in 3q26 acute myelogenous leukemia (#AML) - a particularly lethal form of AML with poor overall survival.    Led by researchers at the University of Parma, with data analyzed with the SOPHiA DDM™ Plaform, the study produced several key findings:    · Histone deacetylase inhibitors (HDACis) can inhibit EVI1-mediated AML cell proliferation in vitro.  · Treatment with the HDACi entinostat resulted in significant gains in mean survival compared to standard of care in a compassionate use program for 3q26 AML patients. · HDACi response is mediated by PA2G4, a bridging protein that interacts with the EVI1 transcriptional complex.    Taken together, these results argue for broader testing of existing HDACis as 3q26 AML combination therapies and identify PA2G4 as a promising target for the development of new therapies.    Read the publication here: https://lnkd.in/eUCiivq9     #AIforHealthcare Springer Nature Group