Research reveals that genetic makeup significantly influences sepsis response, suggesting treatments could be based on immune response rather than symptoms. Conducted by the Wellcome Sanger Institute and University of Oxford, the study identifies genetic regulators and cell types involved in sepsis. This paves the way for personalised therapies and rapid tests to improve treatment outcomes. Learn more: https://iii.hm/1r18 #PersonalisedMedicine #Genomics #Sepsis
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Struggling with a metabolic disorder? 🧬✨ Genome sequencing can pinpoint the cause and help tailor treatments just for you. Early detection, personalized therapy, and preventative care are now within reach. Discover the power of your DNA and take control of your health today! 💪🚀 #MetabolicDisorder #Genomics #PersonalizedMedicine #DNASequencing #HealthRevolution
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The Khavari Lab at Stanford has pioneered a comprehensive genomic resource for polygenic skin diseases, advancing our understanding at an unprecedented scale. Through MPRA of 3,451 SNVs, we pinpointed 355 variants with differential activity, shedding light on key drivers. CRISPR KO screens of 1,772 human transcription factors revealed 108 that are essential for epidermal differentiation. Further, population-sampling CUT&RUN analysis of 27 homeostatic transcription factors uncovered profound allele-specific differences in DNA binding, revealing new layers of genetic complexity and offering powerful insights into skin disease mechanisms. Link to preprint: https://lnkd.in/gyzB5JyX #skin #skindisease #genomics #epigenomics #functionalgenomics
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Our researchers, in collaboration with colleagues at the Moredun Research Institute, are studying gene-edited pigs to better understand severe Covid-19 infections, providing critical insights into disease progression and treatment development. Pigs, naturally resistant to Covid-19, have anatomical and immune system similarities to humans. By introducing a human gene linked to the virus, researchers have created a model that mirrors how severe cases progress in people. Read more: https://edin.ac/3C47hes #AnimalScience #Covid19Research #GeneticResearch #BiomedicalScience
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Yesterday was World Sickle Cell Day. Did you know that sickle cell disease (SCD) affects about 100,000 Americans and millions of other people worldwide? SCD is an inherited blood condition that forms sickle/crescent-shaped red blood cells, blocking blood flow/oxygen to parts of the body. Early detection of SCD can prevent many complications and can be diagnosed with a simple blood test. At Baylor Genetics, we can help assess the risk for SCD with our carrier screening panel, GeneAwareTM, which screens for SCD. Learn more: https://bit.ly/425hZIg #ThinkBG #BGreat #WorldSickleCellDay
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Associate Professor, MUCM |MD( AIIMS, New Delhi); MBBS (Calcutta Medical College)| Member USCAP |Consultant Clinical pathologist;15+ yrs Exp| Winner 🥇: Osmosis Raise The Line Faculty Award 2022 | Founder:@pathology360
The presence of spherocytes doesn’t automatically indicate hereditary spherocytosis because they can also occur in acquired conditions like autoimmune hemolytic anemia, certain infections, or burns. Spherocytes reflect red blood cell membrane damage, which isn’t specific to a single disease. Additional tests, like EMA-binding test or genetic testing, are required to confirm hereditary spherocytosis. #pathology360 #DrKishoreBanerjee.
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Trying to find the genomic variant responsible for disease is like trying to find the one, correct ball in a huge ball pit. Clinicians, find out the vital part you play when ordering a genomic test that will help maximise the chances. https://buff.ly/4egrcow #genomics
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President @ American Pharmacogenomics Association (expanded to include Multi-Omics & Biomedical Informatics)
Explore the intricate realm of Genomic Mutations, their impacts on health, and advances in detection and management strategies. https://lnkd.in/gm-3F6FS #apgxa #pgx #pharmacogenomics #genomics #mutations #genomicmutations #omics
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[Interesting Publication Summary] Early Onset of Wilson’s Disease and Possible Role of Disease Modifying Genes. Using 𝑮𝒆𝒏𝒆𝒚𝒙 𝑨𝒏𝒂𝒍𝒚𝒔𝒊𝒔 for data interpretation. A Case Report and Literature Review. The Wilson’s Disease (WD) case underwent clinical, histological, and genetic analyses. Read this study, to better understand this diseases' onset and progression. https://lnkd.in/d8PNmhWz #wilsonsdisease #autosomalrecessivecondition #raredisease #genomics
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Take a look at our latest article featuring a pipeline to safely generate isogenic models of disease using #primeediting and #hiPSC. Ocular Genomics Institute Massachusetts Eye and Ear Harvard Medical School
The genetic background of a model may contain additional variants that contribute to the disease and complicate phenotype rescue. In this manuscript, we utilize prime editing technology to safely introduce point mutations into hiPSCs and generate isogenic disease models. With our optimized system, we successfully address the low efficiency typically observed in hiPSCs. Learn more here: https://lnkd.in/efyuKP_i
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If you are interested in prime editing, in this manuscript, we optimized a prime editing workflow to efficiently edit hiPSCs and create isogenic models for retinal diseases, using a combinatorial PE strategy to enhance editing efficiency.
The genetic background of a model may contain additional variants that contribute to the disease and complicate phenotype rescue. In this manuscript, we utilize prime editing technology to safely introduce point mutations into hiPSCs and generate isogenic disease models. With our optimized system, we successfully address the low efficiency typically observed in hiPSCs. Learn more here: https://lnkd.in/efyuKP_i
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