LGC Clinical Diagnostics’ Post

Frustrated with traditional animal and primary cell models when researching MASLD? We have the solution! Compared to traditional cell models, DefiniGEN's human iPSC-derived hepatocytes demonstrate superior biological relevance, more accurately recapitulating MASLD's mechanisms and pathology. This allows researchers to predict human outcomes more reliably, while avoiding species-specific differences that limit the efficacy of animal models. Their reproducibility and scalability make them ideal for high-throughput screening, bypassing the variability seen in primary or immortalized cell lines.   DefiniGEN’s iPSC-derived hepatocytes offer 3 critical advantages for studying Metabolic Associated Steatotic Liver Disease (MASLD): - Scalability: Consistent and reproducible, perfect for high-throughput drug screening. - Phenotypic Accuracy: Mirrors key MASLD features like lipid accumulation and inflammation for precise studies. -Predictive Outcomes: Human-based models that provide better clinical relevance than animal models, primary cells, or immortalized cell lines, which often lack the complexity of human liver disease.   Learn more about our MASLD model by reading our new blog here: https://lnkd.in/es7jHVYg   #LiverResearch #DrugDiscovery #iPSC #MASLD #NASLD #MAFLD #NAFLD #hepatocytes

 🌟 CIMA Sciences, LLC and OWL Metabolomics will attend at the Emerging Topic Conference: Precision Medicine in MASLD, which is organized by American Association for the Study of Liver Diseases (AASLD) in Las Vegas the 8-9th of March, in which CIMA Sciences, LLC will be sponsoring the coffee break. 🔬 Cristina Alonso, the Metabolomics Services Manager of OWL Metabolomics, will deliver a talk on advances in metabolomics and hepatology. Don't miss her talk! 🩺In collaboration with Luxor Scientific, our CLIA-certified lab, we are enhancing patient outcomes with OWLiver® non-invasive diagnostic tool. Leveraging UHPLC-MS technology, which is provided by our trusted partner and utilized by OWLiver ® non-invasive diagnostic tool, we analyze fasting blood samples to detect lipid biomarkers essential for assessing liver health.   🤝 Meet us in the event to discover more about OWLiver® non-invasive diagnostic tool and how we're contributing to non-invasive liver health diagnostics to fight #MASH and #MASLD.   #MASEF #NonInvasiveDiagnostics #CIMAScience  

📣 New publication 📣 📖 Our latest research on the ‘Economic effects of next-generation sequencing diagnostics in unspecific sepsis patients – a budget impact analysis from the healthcare providers’ perspective in Germany’ was published in the European Journal of Clinical Microbiology & Infectious Diseases. 🔍 The purpose of the budget-impact analysis was to calculate the potential cost-savings of Next-generation sequencing (NGS) from the perspective of hospitals. NGS has shown various advantages from a medical perspective but evidence is still scarce regarding its economic impact on inpatient care. Therefore, we conducted a budget-impact and break-even analysis to provide an approximation of possible cost savings NGS can have on inpatient care due to its improved sensitivity and specificity compared to blood culture tests. We are certain that economic studies are necessary in helping decision-makers in hospitals choose to adopt innovative solutions such as NGS. ▶ Find the full open access article at: https://lnkd.in/evxBpUKK Congratulations to the authors: Anne Wenzel, Johanna Röder, Tabea Poos, PD Dr. Fabian Dusse, MHBA, Prof. Dr. Florian Kron

The ACMG Annual Clinical Genetics Meeting 2024 is just over 5 weeks away, and you can sign up now for our in-person satellite symposium: "Optimizing care for patients with Fabry disease: interactive case challenges."   In the 1.5-hour session, an expert faculty will discuss practical issues in diagnosis and care, including how to devise optimal treatment plans. There will be interactive case challenges and patient videos highlighting real-world scenarios, to help underline the importance of multidisciplinary care adapted for each individual patient.   This educational CME-accredited event is intended for geneticists, genetic counselors, and other healthcare professionals who provide care for patients with, or at risk of, Fabry disease, and who are attending ACMG 2024. To learn more, and to sign up for the session, visit https://lnkd.in/gkEVjbSU   #ACMG #Fabrydisease #LSDs #raredisease #genetics #clinicalgenetics #geneticcounselors #multidisciplinarycare #meded #medicaleducation #accredited #CME #Ology #interactive #cases

I am thrilled to share my latest publication exploring the role of Sel1l in controlling the collagen homeostasis during the lung fibrosis. SEL1L is known to be a key member of the ERAD pathway, but our data indicate that the collagen-sensing function of SEL1L is independent of its ERAD function, defining a noncanonical function for this protein. https://lnkd.in/eGCsAQ8N

We support all who advocate for rare disease patients and families during #RareDiseaseMonth. At RCIGM, we want to end the diagnostic and therapeutic odyssey for children with rare, genetic conditions. Learn how we aim to accomplish this mission through #BeginNGS: https://lnkd.in/gRhRNMwn #WholeGenomeSequencing #genomics #raredisease

New preprint from Genomic Answers for Kids (GA4K) at Children's Mercy Kansas City. Integrating >2,000 GA4K patient cases and >1,000 polygenic scores (PGS) from PGS Catalog, we map common variant polygenic liability underlying rare disease phenotypes across PGSs for common diseases, blood protein levels, brain and other organ morphological measurements, more. With application to VUS interpretation, we observe enriched polygenic liability for these mapped complex trait PGS in probands compared with their unaffected carrier parent. We further apply concepts from common disease genetics to highlight potential strategies for the discovery of novel rare disease genes. Check out more in the preprint here: https://lnkd.in/giNGdX3r #rarediseases #genomicmedicine

There is still time to share your feedback on the Scope of Work for the KDIGO APOL1 Kidney Disease Controversies Conference. You can share comments via the feedback survey on the conference website through Wednesday, March 27: https://lnkd.in/ejydQmwi The conference, co-chaired by Akinlolu (“Ojo”) Ojo, MD (United States) and Ifeoma Ulasi, MD (Nigeria), will bring together key thought leaders and stakeholders, including patients, experts in nephrology and related disciplines such as nephropathology, genetics, epidemiologists, ethics, immunology, pharma, and social work to comprehensively review the literature and current state of understanding in #APOL1, and to address clinical issues. KDIGO appreciates your time and insights. #APOL1 #kidneydisease #geneticscreening #CKD

I am really happy to announce that our latest paper on chronic liver disease modelling is now online and published in Biofabrication! It is a collaborative effort by Laura Cools, Mina Kazemzadeh Dastjerd and several members of the Vrije Universiteit Brussel LIVR Lab & UZ Brussel. It is also the result of a longstanding collaboration with Catherine Verfaillie (KU Leuven). In this paper we independently differentiated human iPSCs towards hepatoblasts (iHepatoblasts), hepatic stellate cells (iHSCs), endothelial cells (iECs) and macrophages (iMΦ), before assembly into free floating spheroids. These iPSC-derived liver cultures can mount a fibrotic response due to hepatocyte injury, possibly eliminating the need for primary human liver samples. This opens doors to investigating pathways involved in human fibrosis development and to identify new targets for chronic liver disease therapy. This model could pave the way for patient-specific testing and potentially reduce reliance on animal models in drug discovery. Huge thanks to Catherine Verfaillie and congratulations to Laura Cools, Mina Kazemzadeh Dastjerd, and the entire LIVR Lab for this exciting work! This research was supported by Research Foundation Flanders - FWO. #biofabrication #liverdisease #personalizedmedicine #iPSCs #fibrosis #drugdiscovery #VUB VUB/UZB UMCOR https://lnkd.in/eDmPtnmm

Non-Invasive Prenatal Testing (NIPT), since its introduction into clinical practice over 10 years ago, has positively influenced prenatal diagnosis. NIPT has established itself as a safe alternative to invasive investigations (i.e., amniocentesis and villocentesis), while ensuring high reliability in relation to serological tests such as the Bi-test. Visit our website https://shorturl.at/BKq0t and learn about all that PrenatalSafe, our cutting edge NIPT, can do for your patients. #GeneticTesting #genetics #earlydetection #diagnostictesting #healthcareinnovation #precisionmedicine #biotech #lifesciences #genomics #scientists #medicallaboratory #precisionmedicine #NGS #nextgenerationsequencing #prenataltesting #NIPT #prenatalcare #assistedreproduction