Alison London’s Post

Alhamdulillah, our paper got accepted ✅ 📝 Title: Utilizing Kidney Ontology for Data-Driven Exploration of Potential Biomarkers in Kidney Diseases: Introducing the Kidney 📝 Abstract: This study proposes a new way of finding possible kidney disease biomarkers using Kidney Diseases Biomarker Ontology (KDBO). This research classically merges clinical imaging, biopsy data, proteomics, and genomics data derived from various sources through the Kidney Development Subontology (KDSO) of the Gene Ontology (GO). Machine learning algorithms, network analysis, and statistical approaches to identify novel biomarkers that show implications for renal impairment in different stages of the disease have been employed here. A comparison between the new upstart markers found and the available right ones has been done on patient cohorts to confirm their accuracy. The investigation exhibits that employing a kidney ontology improves diagnosis, prognosis, and treatment by facilitating earlier identification of dysfunction, precise evaluation of disease severity levels, and tailored choice of therapy. Additionally, it tackles issues related to renal ontologies and presents suggestions for forthcoming studies.

Mosaic structural variants (mSVs) in human aging A mystery surrounds how mosaic structural variants (mSVs) impact healthy tissues at the cellular level. This study sequenced over 1,000 single cells from 19 donors, revealing diverse mSVs in blood stem cells. Surprisingly, only those over 60 showed expanded mSV subclones. Cells with existing mSVs were more likely to acquire further variations. High-resolution cell typing identified eight distinct cell types. Expanded mSVs disrupted cellular function by misregulating pathways, favoring specific blood cell progenitors. This suggests mSVs contribute to aging-related changes in blood cell production and paves the way for understanding how they influence aging and disease risk in healthy tissues. The original article was published in Nat Genetics: https://lnkd.in/eXQhSvu2 https://lnkd.in/eKkpfi3V #genetics #genomics #precisionmedicine #genomicmedicine #dna #mosaicism #aging #longevity #blood #cancer #mutations #physiology #homeostasis #singlecell #hematopoieticstemcells #therapeutics #biomarkers #biotechnology #innovation #research #science #sciencecommunication

🚀 Nobel Prize in Medicine Awarded for Pioneering Work on MicroRNAs The 2024 Nobel Prize in Physiology or Medicine has been awarded to Victor Ambros and Gary Ruvkun for their groundbreaking discovery of microRNAs—tiny RNA molecules crucial for gene regulation in multicellular organisms. 🧬🏆 🔑 Key Takeaways: ◾ Ambros and Ruvkun's work at the University of Massachusetts Medical School and Massachusetts General Hospital respectively, unveiled that microRNAs play a significant role in controlling how genes express themselves in cells. ◾ Initially observed in roundworms, this discovery was later found to be a universal mechanism across many organisms, including humans. ◾ The duo’s research opened up new paths for understanding diseases and developing innovative therapeutic strategies, particularly in cancer and cardiovascular diseases. 🌍 Why This Matters: This discovery has profoundly impacted the field of genetic research, highlighting the complexity of cellular processes. MicroRNAs are now known to influence everything from embryonic development to disease progression, offering potential new avenues for treatment strategies. The field of microRNA therapeutics, though still developing, holds promise for harnessing these molecular regulators to combat various diseases effectively. As we advance, the implications of this research could revolutionize our approach to medicine and disease treatment. 🔗 https://lnkd.in/eRegJtAM #NobelPrize #Genetics #MicroRNAs #MedicalResearch #HealthcareInnovation

The Nobel Prize in Physiology or Medicine 1989 celebrates a groundbreaking discovery in the field of genetics. Michael Bishop and Harold Varmus uncovered a large family of genes, known as oncogenes, that regulate normal cell growth and division. Their work revealed that disturbances in these genes could transform normal cells into tumor cells, leading to cancer. In 1976, Bishop and Varmus made the remarkable discovery that the oncogene in a virus was not a true viral gene, but rather a normal cellular gene that the virus had picked up during replication. This revelation has profoundly shaped our understanding of tumor development, with over 40 different oncogenes demonstrated to date. Their findings have also deepened our knowledge of the complex signaling systems that control cell growth. To uncover more about their research, go here:- https://bit.ly/3AKR9NU . . . #nobelprize #healthcare #healthcareresearch #medicine #physiology #medical #doctors #discoveries #medicalresearch #tumor #genes #virus #genetics #oncogenes #powertoprove #powertopropel #hcps #healthcareprofessionals #hcpcommunity #research #physician #nurses #medicalprofessionals #surveys #MedicalInnovation #scientists #physiologists #biology

Core Oxford Nanopore Technologies webinar: Scalable human genomic characterisation with nanopore sequencing. This webinar will take place at 4pm (BST) or 11:00am EDT Our speakers will cover:  The technical fundamentals of implementing nanopore sequencing and the bioinformatic analysis workflows needed for your research. The level of accuracy nanopore sequencing offers for the detection of genomic variations to deliver comprehensive insights. The usage of pre-packed bioinformatic workflows to run data analysis and retrieve key genomic information. Examples used in research settings to investigate genetic disorders, cancer genomics, or population genetics. Register Here https://lnkd.in/daUYNGyX

Mosaic structural variants (mSVs) are genetic alterations where different cells within the same individual have distinct structural variations in their DNA. These variations can include deletions, duplications, inversions, or translocations of large segments of chromosomes. By sequencing 1,133 single-cell genomes from 19 donors, researchers found that mSVs in hematopoietic stem and progenitor cells (HSPCs) accumulate over time, becoming more prominent in individuals over 60. These mSVs predispose cells to additional structural variants and disrupt normal functions, resulting in pathways overrepresentation typical of myeloid progenitors. https://lnkd.in/gegvhm8G

Landmark genetics partnership to probe causes of cancer and dementia Oxford Nanopore’s breakthrough genetic sequencing tech to analyse 50,000 samples from UK Biobank, to create a world-first ‘epigenetic map https://lnkd.in/eXFvD4HQ Oxford Nanopore Technologies

📍 Signaling pathways specifying a subset of migrating enteric neural crest cells at the wavefront in mouse embryos Zhou et al. used single-cell RNA sequencing and spatial transcriptomics to map the spatiotemporal dynamics and molecular landscape of wavefront enteric neural crest cells (ENCCs) in mouse embryos.    Highlights 🔹 Spatial and temporal profiling of wavefront ENCCs at single-cell resolution 🔹 A comprehensive interactome of wavefront ENCCs and their microenvironment 🔹 The arrival of wavefront ENCCs controls gene expression changes in gut tissues 🔹 Ephrin-Eph, Wnt-Frizzled and Sema3a-Nrp1 signaling is impaired in Hirschsprung's disease ➡ More details: https://lnkd.in/eQ4ewcPU #spatialomics #spatialbiology #singlecellanalysis #singlecell

𝐓𝐡𝐞 𝐖𝐚𝐝𝐝𝐢𝐧𝐠𝐭𝐨𝐧'𝐬 𝐄𝐩𝐢𝐠𝐞𝐧𝐞𝐭𝐢𝐜 𝐋𝐚𝐧𝐝𝐬𝐜𝐚𝐩𝐞 𝐝𝐮𝐫𝐢𝐧𝐠 𝐚𝐬𝐭𝐫𝐨𝐜𝐲𝐭𝐞 𝐝𝐢𝐟𝐟𝐞𝐫𝐞𝐧𝐭𝐢𝐚𝐭𝐢𝐨𝐧 Conrad Hal Waddington—often regarded as one of the founding figures of the Developmental Biology & Epigenetics—conceptualized cell development as a process where cells, depicted as balls—hurtle through a landscape of "bifurcating valleys". Each valley indicatates—a potential cell fate, while ridges between valleys maintain the chosen fate. In Waddington's analogy—a cell, initially positioned in a valley at the landscape's rear—progresses forward & downward as it rolls. Valleys split into new ones, offering alternative cell fates. The process continues with further splits until the cell reaches terminal sub-valleys—representing distinct, differentiated states. High valley walls permanently confine the cell to its terminally differentiated state—with the steepness of the walls reflecting the degree of canalization, as per Waddington's terminology. In simpler terms, not all cells follow the same path, even if they're supposed to be the same type. It's a bit like us humans. Each of us has our own journey in life. Some say it's destiny. Likewise, some cells find it easier to navigate obstacles, like valleys, while others struggle on smoother terrain. It all depends on various factors. Environment, genetic background, disease versus health state, etc. Now, back to our cells. We're living in a time when scientists can actually engineer or even rewind these cellular journeys. Yes, it's almost like time machines within cells! With today's technology, we can not only spot cells going off track but also guide them back to where they belong. Pretty mesmerizing, isn't it? The recent study underscores the differentiating potential of IDH-mutant glioma (mutations in isocitrate dehydrogenase IDH enzymes) on the cellular hierarchies governing oligodendrogliomas. It also proposes a genetic modifier that could enhance patient stratification. I put a link to the paper & preview in the comments. Enjoy! ~~~ Thank you so much for reading. Wish to learn more? Hit the 𝐅𝐨𝐥𝐥𝐨𝐰 [👥👋🏼]—you'll never miss out on the latest 𝐄𝐩𝐢𝐠𝐞𝐧𝐞𝐭𝐢𝐜 news 🎯! Give it a like [👍🏼] or share [🕊️] the post to spread this Epi-message 💌. I'm 𝐃𝐚𝐦𝐢𝐚𝐧, & I talk about: #precisionmedicine #epigenetics #genomics #singlecell #genetics #science #health —Always be on top of your DNA 🔝⏳🧬!

Exciting breakthrough in genetic research! 🧬🥼🔎 . . . A joint investigation unveils rare mutations in the YKT6 gene as the root cause of a groundbreaking neurological disorder shedding light on developmental delays, progressive liver disease and the risk of liver cancer. Led by Dr. Hugo Bellen and Dr. Wendy Chung, this study published in Genetics in Medicine marks the first connection between the YKT6 gene and a hereditary disorder. Through patient samples and fruit fly models, researchers pinpointed how YKT6 variants disrupt brain development and liver function paving the way for future therapies. The findings particularly significant for the Syrian/Saint Thomas Christian community of Kerala highlight the importance of genetic screening and early intervention in similar populations. This discovery underscores the critical role of ongoing research in unveiling the complexities of genetic diseases and advancing personalized medicine. Article: https://lnkd.in/gbdcpZrm #Genetics #Genomics #NeurologicalDisorders #MedicalResearch #YKT6 #GenomeAnalysis #VariantResearch