Target RWE’s Post

Derivation, validation, and transcriptomic assessment of pediatric septic shock phenotypes identified through latent profile analyses: Results from a prospective multi-center observational cohort. #Research #StanfordMed 🏥 https://lnkd.in/gcNaahxi

The National Human Genome Research Institute (NHGRI)-funded Electronic Medical Records and Genomics (eMERGE) Network has recently published their framework and pipeline to deliver polygenic risk score (PRS) data in a general population setting. Benefits of PRS-based risk assessment include reducing the burden of a range of conditions through targeted interventions and preventative measures. The eMERGE investigators conclude “The potential impact of PRS-based risk assessment in clinical practice is substantial.” The geneType clinical product offering currently overlaps with five of the diseases within the eMERGE study. Erika Spaeth, Scientific Director of geneType says, “A study of this size is a wonderful advancement for the utility of polygenic risk. We believe that the future of personalized medicine will incorporate polygenic risk into population healthcare, but we take our clinical approach one step further and believe that polygenic risk is a more powerful tool in combination with other clinical risk factors.” geneType is involved in similar studies on a smaller scale, currently being carried out with investigators in Australia and we are working hard to be part of the progression of personalized healthcare. Learn more about this landmark #precisionmedicine study: https://lnkd.in/eq82NvXP #AllOfUs #KnowYourRisk #PRS

🪩 Reactive oxygen species (ROS) and habitual inflammation make diabetic wounds tough to treat. 🪩 In this article, Yizhou Dong and team describe a mRNA-LNP topical treatment that is used to aid diabetic wound healing (in mice). 🪩 "Scientists engineered a formulation of diverse ROS-responsive trisulfide-derived #lipid #nanoparticles, which significantly reduce ROS at wound sites. And they've figured out a way to make the lead trisulfide-derived lipid nanoparticle deliver interleukin- (IL-)4 #mRNA to the area to temper the wound inflammation microenvironment." Original Publication: https://lnkd.in/eFwMu-PJ How We Learned About the Publication: https://lnkd.in/e8UGN5Er #LNP #Diabetes #WoundCare #Research #MountSinai Mount Sinai Health System #topical #topicals #transdermal #drugdelivery #DDS #Innovation

🌟New Study Reveals Key Determinant in Liver Disease! 🌍Non-alcoholic fatty liver disease (NAFLD) affects a third of the global population, leading to #LiverFibrosis, which significantly impacts disease severity and mortality. A recent study has now identified a crucial factor contributing to this condition. Researchers from Novartis (Novartis Biomedical Research, Basel) have used #CRISPR and #SpatialTranscriptomics technologies on primary human hepatic stellate cells to pinpoint ZNF469 as a key regulator of collagen expression, crucial for #LiverFibrosis in #NAFLD. This discovery was made through a comprehensive analysis involving transcriptional profiling of 108 human liver biopsies, covering the entire spectrum of #NAFLD. The #preprint study highlights how #ZNF469 directly interacts with genes and regulatory elements to control collagen levels and matrix homeostasis, marking it as a critical target for potential therapies. 💡 This breakthrough provides hope for better understanding and treating NAFLD-associated liver fibrosis, potentially saving millions of lives. 📖 Read the pre-print: https://hubs.ly/Q02vkkWS0 #Vizgen #MERSCOPE #LiverDisease

A recent study by The Journal of Clinical and Translational Research (JCTR) shared the insights of a TruGraf 6-month surveillance biopsy that included several kidney transplant patients. What was discovered from the patients? Dive into the full details here: https://loom.ly/tpF9yAU #KidneyTransplantation #ObservationalStudy

Innovative research revealing the potential for three powerful therapies, including combination biologic therapy, to treat biologic-naive Crohn's disease patients. Up to now, I have seen combination biologic therapy for biologic-refractory patients, but these results indicate the combination approach could be safe and effective for biologic naive-patients as well. #gastroenterology #crohnsdisease #clinicaldata

In the year 2024, I will be bringing to you on behalf of my company Healync, a series of health information and topics that we hope will be useful in you understanding your care better. I encourage you to share, comment and post topics that you would like us to cover. 70% of the cases that came to Healync Technologies Private Limited in 2023, were of cancer, that too from the HNI and UHNI communities. With cancer overtaking cardiovascular diseases as the leading cause of death in wealthy countries (PURE study published in The Lancet on Sept 3, 2019), I thought it would be useful to discuss one of the most exciting diagnostic tools that has caught the interest of doctors, researchers and patients worldwide. Blood tests to detect early stage cancers - would you do it? Multi-cancer early detection tests (MCED) is a type of liquid biopsy that can detect from two to over fifty types of tumors in a single blood test. It is well established that cancers caught early have better treatment outcomes, increased survival rates, and can potentially help in avoiding costly advanced-stage treatments. How does MCED work? These tests can detect a common cancer signal from over 50 different types of cancer and predict where the signal has come from in the body for a patient who has never had any history of cancer. This can help physicians fast track more investigations to get to the root of the disease. These screening measures can now encourage more people at risk (above 50 years) to take the first step towards early detection. (ESMO Congress 2022, Results of the PATHFINDER Study) Are MCED tests completely reliable? (PATHFINDER Study results) The good news is that the sensitivity of the test to negative cancer results was 99.1% accurate. 92 out of 6621 (1.4%) patients were given positive cancer results out of which 35 were true positives as shown by further investigations and 57 were given false positives. In about 2-3 months both cases of true and false positives were confirmed by more investigations. One would argue the unnecessary investigations and the emotional trauma, fear that the people had to experience having false results but imagine the time saved for people who did find out early on. Larger trials are being conducted by cancer bodies worldwide to improve this diagnostic tool and we sure are looking forward to those results. Companies that are commercially offering these tests and backed by leading institutions are listed below. USA: Grail by Galleri: https://lnkd.in/dkqymk7m GRAIL UK: Truchek: https://lnkd.in/dMAmk5p9 RAJAN DATAR Datar Cancer Genetics Europe GmbH India: OncoVeryx-F to be launched CORE Diagnostics Singapore: LucenceInsight https://lnkd.in/dNXHftkC Lucence Would you do a simple blood test to check for cancers ? *Disclaimer: please note that there are many more leading companies invested heavily in exploring this space for cancer detection. We have only mentioned a few of them.*

One of the key challenges in #DMD research is ensuring the availability of high-quality biospecimens for analysis. As DMD is a #raredisease, obtaining an adequate number of samples can be difficult. Furthermore, the diversity of the patient population must be considered to ensure that research findings are applicable across different ethnicities and genetic backgrounds. Historically, clinical trials and research studies have primarily included individuals of caucasian descent, leading to a lack of representation from other populations. However, recent efforts have been made to address this disparity and promote #diversityinDMD research. Initiatives such as the #DMDHumanTissueBank, established by Cooperative International Neuromuscular Research Group, aim to collect and distribute biospecimens from individuals of diverse backgrounds. Garner Bio stands at the forefront of supporting pre-clinical research into Duchenne Muscular Dystrophy (DMD) by providing a diverse array of biospecimens sourced with utmost adherence to rigorous U.S. standards and protocols, including 45 CFR part 46, HIPAA, 21 CFR Part 50/56, and the Uniform Anatomical Gift Act. Through exclusive partnerships with esteemed hospitals worldwide, Garner Bio ensures access to a wide variety of biospecimens, facilitating pre-clinical trial sponsors' objectives for racial and ethnic diversity. Our commitment to excellence in compliance, partnership, and accessibility underscores our dedication to advancing DMD research and improving outcomes for patients worldwide. Contact us today to learn more. #Duchennemusculardystrophy #DMD #DMDresearch #DMDbiospecimens #raredisease #preclinicalresearch #clinicalresearch #Garnerbio #biospecimensourcing https://lnkd.in/dc2_pqeR

After 6 years, the journey of the OptimAT study (NCT03477331) has finally come to an end with 4/6 antithrombotics reaching the target of 100 recruited patients. This prospective study aims to validate PopPK and PBPK models for direct oral anticoagulants and P2Y12 inhibitors in a cohort of hospitalised patients HUG - Hopitaux Universitaires de Genève. Clinical events were also followed up for up to two years. All patients were phenotyped and genotyped for CYP450 and a large biobank was established. The ultimate goal is to provide clinicians with a tool to identify a priori patients at risk of under- or overdosing and clinical events (e.g. bleeding). Thanks to all the people who made this project possible: Jean-Luc Reny Youssef Daali Caroline Samer Jules Desmeules and our wonderful national Pierre Fontana Frédéric Gaspar Chantal Csajka Monia Guidi Camille Lenoir Victoria Rollason and international collaborators Brahim Achour Amin Rostami-Hodjegan. And a special thanks to our clinical research coordinator Pauline Gosselin without whom none of this would have been possible. Several projects derived from this cohort are in progress and will be released in the coming months. And if you missed the last ones: 🔶Apixaban and rivaroxaban's physiologically-based pharmacokinetic model validation in hospitalized patients: A first step for larger use of a priori modeling approach at bed side https://lnkd.in/eGJVpFhq 🔶 Population pharmacokinetics of apixaban in a real-life hospitalized population from the OptimAT study https://lnkd.in/efEKPVxm 🔶 Liquid Biopsy for Patient Characterization in Cardiovascular Disease: Verification against Markers of Cytochrome P450 and P-Glycoprotein Activities https://lnkd.in/e_pec_vc 🔶 Impact of the Genotype and Phenotype of CYP3A and P-gp on the Apixaban and Rivaroxaban Exposure in a Real-World Setting https://lnkd.in/eqPVYhdw #research #medicine #health #personalisation #pharmacology

#Polygenicriskscores (PRSs) have improved in predictive performance, but challenges remain, such as reduced predictive performance in diverse populations and interpretation and communication of genetic results. The National Human Genome Research Institute-funded Electronic Medical Records and Genomics (eMERGE) Network has developed a framework and pipeline for returning a PRS-based genome-informed risk assessment to 25,000 diverse adults and children as part of a clinical study. Ten conditions were selected for implementation based on PRS performance, medical actionability, and potential clinical utility, including cardiometabolic diseases and cancer. The team developed a pipeline for clinical PRS implementation, calibrated PRS mean and variance using genetic ancestry, and created a regulatory compliance framework. The initial experience from eMERGE can inform the approach needed to implement PRS-based testing in #diverse #clinicalsettings. #clinicalgenetics #clinicalgenomics #genetictesting #genomicmedicine #genomictesting #humangenetics #medicalgenetics #precisionmedicine