Marea Therapeutics’ Post

In chronic inflammatory bowel diseases, such as ulcerative colitis and Crohn’s disease, a robust communication network involving macrophages and inflammatory fibroblasts within inflamed intestinal tissues is unveiled by single-cell RNA-sequencing and spatial transcriptomics. This comprehensive approach has highlighted the potential significance of myeloid and stromal cell subsets in understanding the diverse symptom presentation and treatment responses. A great study by Alba Garrido-Trigo, et al. on Nature Genetics “Macrophage and neutrophil heterogeneity at single-cell spatial resolution in human inflammatory bowel disease”. #crohnsdisease #ulcerativecolitis #scRNA #BioTuring Read the publication here: https://lnkd.in/gdW6mwQ9 Explore the dataset on Talk2Data now: https://lnkd.in/gqGiZ8kA

World DNA Day is an annual, global celebration of the discovery of the DNA double helix structure. This year is the 70th anniversary. It was on this day, in 1953, that Watson and Crick, with the precious contribution of Rosalind Franklin, described the structure of DNA and its double helix. Thanks to this discovery, GENinCode tests now provide information about inherited conditions, disease diagnosis and improved risk assessment in cardiovascular disease. Our tests are designed to help physicians make improved clinical decisions. With comprehensive genetic risk assessment, we are able to stratify patients at most risk and identify personalised treatment to prevent cardiovascular disease. The GENinCode preventative cardiology approach is now being applied to healthcare systems across the US, UK and Europe to advance preventative care, deliver efficient resource management and improve outcomes. #dnaworldday #dna #genetics #science #health #earlydetectionsaveslives #genincode #cardioincode #lipidincode #thromboincode 

Take a look at the observational, genetic and mechanistic evidence that has put Lp(a) in the spotlight as a heart disease risk factor – with Professor John Chapman on Lpa Forum >> https://lnkd.in/e5SD_PZH #Lpa #lipoproteina #heartdisease #CVD #ASCVD #lipidologists #cardiologists

Excited to share our paper that came out in Disease Models and Mechanisms on the role of HBS1L in retinal dystrophy. https://lnkd.in/enydzVy9 Here is the write up on the paper published on inventUM https://lnkd.in/eFBtP4Vd

𝗪𝗼𝗻𝗱𝗲𝗿𝗳𝘂𝗹 𝘁𝗼 𝘀𝗲𝗲 𝘁𝗵𝗲 𝗶𝗺𝗽𝗮𝗰𝘁𝗳𝘂𝗹 𝗿𝗲𝘀𝗲𝗮𝗿𝗰𝗵 𝗮𝘁 𝘁𝗵𝗲 𝗩𝗶𝗰𝘁𝗼𝗿 𝗖𝗵𝗮𝗻𝗴 𝗖𝗮𝗿𝗱𝗶𝗮𝗰 𝗥𝗲𝘀𝗲𝗮𝗿𝗰𝗵 𝗜𝗻𝘀𝘁𝗶𝘁𝘂𝘁𝗲! 🌟 Dr. Chai Ann (Andy) Ng is making groundbreaking progress in diagnosing and treating inherited heart disorders using our SyncroPatch 384 system. Their high-throughput genetic test for Long QT Syndrome is revolutionizing the study of genetic variants, delivering faster and more accurate results for patients. Read more about Dr. Ng's story below 👇 #CardiacResearch #GeneticTesting #Arrhythmias #APC #Electrophysiology

"Prevalence of Genetic Variants and Deep Phenotyping in Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single-Centre Cohort Study", publiziert in JCM Special Issue "Diagnosis and Management of Aortic Diseases: Drafting from Theoretical Aspects to Clinical Practice" https://lnkd.in/eZVgsvBK Ich danke allen Netzwerkpartnern, gemeinsam stehen wir für innovative Gefäßmedizin 😷

Resonant supports Rare Disease Day! Did you know that approximately 1 in 10 people in the US are affected by rare disease? Because funding and patients are limited in rare diseases, studying and developing diagnostics and treatments is incredibly challenging. But because aproximately 80% of rare diseases have a genetic basis, advancements in DNA sequencing technologies in recent decades are revolutionizing diagnoses and improving therapeutics for many conditions. We are extremely optimistic this trend will continue—to ensure a brighter future for those living with rare disease! For the most up-to-date information about genetic and rare diseases, visit the National Institutes of Health's Genetic and Rare Disease Information Center at: https://lnkd.in/gQvEfy5t #rarediseaseday2024 #rarediseases #neurodegenerativediseases #als #alsawareness #diagnostics

I am pleased to announce that in collaboration with Dawn Laney and Jingjing Yang at the Emory University School of Medicine – Department of Human Genetics, our work developing a risk assessment screening tool for Fabry disease, the FDrisk, has been published online in The Journal of Rare Diseases. https://lnkd.in/eSzhkziy Lobel, C.J., Laney, D.A., Yang, J. et al. FDrisk: development of a validated risk assessment tool for Fabry disease utilizing electronic health record data. J Rare Dis 3, 2 (2024). Fabry disease is a rare genetic disease affecting many organs in the body. Like most rare diseases, there is a lack of awareness of Fabry disease which often causes long delays in diagnosis and treatment. We developed the FDrisk to address the critical need for correct and earlier diagnosis and treatment. #fabrydisease 

#Adrenoleukodystrophy #ALD #Genomics Here is an interesting paper currently being researched on ALD (Adrenoleukodystrophy) disease: The study titled "Abcd1 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy" investigates the impact of ABCD1 deficiency on demyelination and neurological damage using a cuprizone mouse model. It found that while ABCD1 deficiency accelerates oligodendrocyte loss and axonal damage, it does not significantly affect the microglial or astrocyte function in myelin clearance or remyelination. This study highlights the role of ABCD1 in exacerbating demyelination but also shows that remyelination potential remains intact despite the genetic deficiency. Mouse model : CPZ For a basic introduction to ALD (Adrenoleukodystrophy), please check out the following video link! https://lnkd.in/gAJ7nJNC https://lnkd.in/gMgg56e7

NEW DATA ALERT! Benefit from consistent, defined and scalable human iPSC-derived disease model cells to study the impact of mutations related to Alzheimer’s and Parkinson’s in human CNS cells? Explore our latest poster to see the characterisation and functional data of our ioDisease Model Cells™ for Alzheimer’s disease. https://hubs.ly/Q02pkz1Z0 The disease model cells show protein expression of key markers. The ioMicroglia™ APOE 4/4 and TREM2 R47H Het disease models also show reduced phagocytic activity compared to the genetically matched wild-type control. #research #DrugDiscovery #AlzheimersDisease #ParkinsonsDisease #microglia #glutamatergic #neurons #science #data #optiox #ioCells #ioDiseaseModelCells