Molly OShea, MD, FAAP’s Post

Genome editing technologies has enabled modification of DNA sequences with unprecedented precision and efficiency.   Together with efficient platforms for ex vivo and in vivo delivery into cell types of interest, it offers an exciting possibility of tailored medicine to effect lasting curative therapies.    Recent advances in the technology landscape have paved the way for rapid development of new medicine for any genetic disease.   This session brings together pioneers in the field who will share important perspectives on developing and delivering these novel approaches that navigate current manufacturing, clinical and regulatory challenges to achieve affordable therapies.  Bruce Levine Fyodor Urnov Laura Sepp-Lorenzino, Ph.D. Details on this and other concurrent session are available here:  https://lnkd.in/gnygA7n8

Pushing boundaries in rare disorders Here we can see how nanopore sequencing is enabling to find the genetic mechanism of different rare disorders unresolved by other techniques, as @Bedelamo presented on last London Calling 2023. Watch it here: https://lnkd.in/dyJRYge4

Join CENTOGENE’s Prof. Peter Bauer, M.D., Chief Genomic and Medical Officer, and Dr. Jorge Pinto Basto, Vice President Medical Genetics, in our upcoming webinar on November 15 to learn more about how you can capture the most complete clinical picture by leveraging the power of transcriptomics. Don’t miss out as they dive deep into the diagnostic challenges you can overcome with MOx 2.0 – now including RNA sequencing! 📆 Save the Date: November 15, 2023  🕔 Time: 5:00 p.m. CET  🔗 Register Here: https://lnkd.in/efK67Azr #CentoTalk #Webinar #MOx #Multiomics #Transcriptomics #MultiomicRevolution #PrecisionMedicine #RNA #Sequencing #Innovation #Diagnostics #RareDisease

Integration of population genetics (GWAS) and single-cell methods (Perturb-seq), and it's amazing! These approaches can bring computational/statistic results and highly complex biological contexts all together.

Unleashing the Power of Genomic Evolution with Next-Generation Sequencing (NGS) Insights Let's discuss the four crucial elements within this arena.✅ ▪️NGS Revolutionizes Genetic Analysis: Unmatched accuracy redefines genetic analysis, surpassing conventional methods. ▪️Revamped Personalized Medicine: Healthcare undergoes a transformation with tailored treatments derived from individual genetics. ▪️NGS Speeds Diagnostic Precision: Swift, targeted disease detection and treatment redefine diagnostic approaches. ▪️Expansive Influence Beyond Healthcare: NGS innovations extend their reach across diverse fields, promising widespread impact. Join Forces for Precision Medicine، Share your insights to collectively shape the future of NGS-driven precision medicine!✅ #PrecisionMedicine #GenomicSequencing #NGSDrivenPrecision #RapidDiagnosis

Researchers have linked hundreds of genetic variants to coronary artery disease risk, but as with many conditions, probing the biological relationships between variants and risk remains challenging. Gavin Schnitzler, Helen Kang, Rajat Gupta, Jesse Engreitz and colleagues have developed and applied what they call a Variant-to-Gene-to-Program (V2G2P) approach which prioritizes the pathways shared by multiple risk loci. Using CRISPRi-Perturb-seq and machine learning, they found connections between CAD risk and 41 variants in endothelial cells, which line blood vessels. Several of these variants regulate endothelial cells' response to blood flow, and represent new CAD mechanisms. Learn more in Nature: https://lnkd.in/efcmYbNQ. #BroadInstitute #Science #ScienceNews #Research #ScientificResearch

#DYK Duchenne and Becker Muscular Dystrophy (DMD and BMD, respectively) are among the most common inherited neuromuscular conditions in children? Molecular confirmation of both DMD and BMD can be difficult given the high percentage of causative intronic and small copy number variants (CNVs). Because genome sequencing has higher sensitivity than exome for detecting small copy number variants, and breakpoint analysis can determine the location and orientation of copy number gains, genome sequencing was able to detect DMD and BMD variants that other technologies, such as WES, could not. Learn more: https://ow.ly/WjTu50QlclA

Combination of genome-wide rare variant-based linkage analysis and ultra-long read genome sequencing revealed molecular diagnosis of Facioscapulohumeral Muscular Dystrophy Type 1 in a family https://bit.ly/3Tp6Xgb #GIMO

Valuable insights from today’s session, especially in spatial biology. In particular, spatial transcriptomics – mapping gene activity within physical location in tissue sections – shows promise to transform 3D neural tissue engineering in regenerative medicine. It's also intriguing to consider redefining brain cell types beyond the current "5,000" types/clusters, focusing on connectivity and input-output behavior between cells.

🔬 Bridging the Gap: Genome Analysis in Clinical Workflows 🏥 Genome analysis is reshaping clinical workflows, offering personalized insights for better patient care. At GenomAnalysis, we integrate the finest genomic techniques into clinical settings, empowering healthcare professionals with actionable genetic information. From diagnosing rare diseases to guiding treatment decisions, our advanced genomic solutions streamline clinical workflows and improve patient outcomes. Join us in revolutionizing healthcare through the power of genomics. #GenomAnalysis #ClinicalGenomics #HealthcareInnovation