Alexion Pharmaceuticals, Inc.’s Post

Our recently published work was designed to estimate the cost-effectiveness of pharmacogenomic-guided treatment in kidney transplant recipients in the Austrian Healthcare Setting. U-PGx Prepare study represents the world's largest scale (7,000 patients), open-label, multicenter, controlled, cluster-randomized crossover implementation study in genomic medicine.  i would like to thank all the participants for the great effort.  #https://lnkd.in/d2zsRWV4  #goldenhelixfoundation hashtag #pharmacogenomics hashtag #costeffectivenessanalysis hashtag #research

𝗡𝗲𝘄𝗯𝗼𝗿𝗻 𝗴𝗲𝗻𝗼𝗺𝗲 𝘀𝗲𝗾𝘂𝗲𝗻𝗰𝗶𝗻𝗴: 𝗖𝗵𝗮𝗻𝗴𝗶𝗻𝗴 𝘁𝗵𝗲 𝗳𝗮𝗰𝗲 𝗼𝗳 𝗽𝗮𝗲𝗱𝗶𝗮𝘁𝗿𝗶𝗰 𝗵𝗲𝗮𝗹𝘁𝗵𝗰𝗮𝗿𝗲 Advancements in newborn genome sequencing are transforming how we detect and manage genetic disorders from day one. This cutting-edge technology helps us identify potential health issues early, paving the way for personalised treatments that can significantly improve long-term outcomes. 👶🧬 Dive into the latest whitepaper from Sano Genetics to explore the impact of newborn sequencing on paediatric healthcare. Get your copy here:👇 https://lnkd.in/eF4r2vcg #ClinicalTrials #PrecisionMedicine

Genomic medicine is tailoring treatment to our genetic makeup, offering hope for personalized care like never before. Dive into the future of treatment customization. Your genes, your treatment. Personalized medicine is here! How do you see genomic medicine changing patient care in your field? 🧬 #earlycareerMD #residents #doctors #physicians #medicalresearch #clinicalresearch #writejournalarticles #writingresearch #FutureForwardFriday #digitalhealth #GenomicMedicine

A recent clinical study led by Professor Long Ju from Qinzhou Maternal and Child Health Care Hospital, with technical support from Qiming Venture Partners' portfolio company Berry Genomics (SZSE: 000710), has been published in Human Genomics. The study, titled "Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy," highlights the effectiveness of the CASMA technology. The findings show that CASMA can accurately detect copy number variations and small variants, while distinguishing the "2+0" genotype by integrating family data from two generations. This method holds significant promise for clinical applications in SMA carrier screening. #Genomics #SMA #CarrierScreening #LongReadSequencing #ClinicalResearch #HealthcareInnovation #QimingPortfolio #QimingHealthcare Read More: https://lnkd.in/gM6T5jRD

Join us on November 7th for a #webinar with Antonio Martinez, MD, PhD. This insightful session will highlight the importance of standardised #pathologyworkflows to improve patient safety and diagnostic quality, and ensure high-quality genetic analyses. Don't miss this opportunity to learn from one of the leading experts in the field of #pathology: https://lnkd.in/eznyFM5m #EmpoweringPathology #PathologyLaboratories

Newborn genome sequencing is significantly improving the way we detect and manage genetic disorders from the earliest stages of life. This advanced technology helps identify potential health challenges sooner, enabling tailored treatments that can greatly enhance long-term outcomes. 👶🧬 Explore our latest whitepaper to explore the vast potential and the significant challenges of newborn sequencing in advancing paediatric healthcare.👇 https://lnkd.in/gvAgsQQm #ClinicalTrials #PrecisionMedicine

✨ We would like to invite you to read this excellent paper by Paolo Severino et al. Myocardial Infarction with Non-Obstructive Coronary Arteries (MINOCA): Focus on Coronary Microvascular Dysfunction and Genetic Susceptibility 🏥 Sapienza Università di Roma 👉 More info: https://lnkd.in/dVayi4aS 📑 This article belongs to the Special Issue Myocardial Infarction with Nonobstructive Coronary Arteries (MINOCA): Current Status, Challenges and Future Directions. #clinical #medicine #openaccess #myocardialinfraction #minoca #cardiology

Our collaborators from Professor Millán’s Lab at Sanford Burnham Prebys presented at the American Society for Bone and Mineral Research (ASBMR) Annual Meeting today, showing for the first time that ENPP1 is a druggable target for late-onset hypophosphatasia (HPP), a rare and often severe disease. In in vivo studies using our AI-designed tool ENPP1 inhibitor compound, REV101, pyrophosphate (PPi) was significantly lowered to normal concentrations and improvements in mineralisation of bones were shown, which are key functional readouts for disease pathology. Together with Rallybio, we’re developing an ENPP1 inhibitor with improved properties compared with REV101 as a differentiated therapy to address unmet need in patients with HPP. We look forward to sharing more information with you soon. Download our ASBMR poster here: https://bit.ly/EXAI_ASBMR #rarediseases #AI #drugdiscovery #ASBMR2024

#Stoichiometry - What is it and why should we care about it? 👩🔬 The stoichiometry, or relative number, of proteins in a complex is one of those aspects of bioscience that is often hard to infer or quantify. However, it is increasingly seen as more and more important in drug discovery and disease pathology. Check out our new blog to explore why💡: https://lnkd.in/gTECaKvS

The average amount of time patients wait for an accurate diagnosis of a rare disease is 4-5 years and can sometimes take over a decade! (https://hubs.ly/Q02lm4fd0) REALM wants to use genomics, imaging, pathology and informatics to end these odysseys for rare disease identification. Using integrated diagnostics can help diagnoses and targeted treatment. https://hubs.ly/Q02lm15w0 #RareDiseaseDay #ShowYourStripes