Johns Hopkins Medicine International’s Post

Most research in human genetics has historically focused on people of European ancestries—a long-standing bias that may limit the accuracy of scientific predictions for people from other populations. Now, a team of Johns Hopkins University scientists has generated a new catalog of human gene expression data from around the world. The increased representation of understudied populations should empower researchers to attain more-accurate insights of genetic factors driving human diversity, including for traits such as height, hormone levels, and disease risk. The work deepens the scientific field’s understanding of gene expression in populations of Latin America, South and East Asia, and other regions for which limited data existed. https://lnkd.in/drVVBgkq

Unlocking the Secrets of Genetics for Personalized Data Genetics holds the key to personalized data, enabling tailored treatments, precise diagnoses, and targeted therapies. By decoding genetic codes, researchers and clinicians can: Identify genetic variations: Associated with specific diseases, traits, and responses to treatments. Predict disease risk: Assessing individual susceptibility to develop certain conditions. Optimize treatment plans: Selecting the most effective therapies based on genetic profiles. Develop personalized medicine: Tailoring treatments to individual genetic needs. Techniques for Decoding Genetics Genome sequencing: Mapping an individual's complete genetic code. Genetic engineering: Editing genes to correct mutations or introduce desirable traits. Gene expression analysis: Studying how genes are turned on or off in different contexts. Epigenomics: Examining gene regulation and expression without altering the DNA sequence. Why Decode Genetics: Improved diagnosis: Accurate identification of genetic disorders and conditions. Targeted therapies: Effective treatments tailored to individual genetic profiles. Enhanced patient outcomes: Personalized care leading to better health outcomes. Accelerated research: New discoveries and insights into genetic mechanisms. You will agree with me that we all need data for effective revolution. #BiomedicalData #FutureOfHealthcare #DataRevolution #healthcaresector #healthcaredata #ehr #datainformatics #PersonalizedMedicine #dataanalytics #datacleaning #bigdata #gene #genetics #geneticsdata #datainsights

🧬 Gene Priorization Combining Machine Learnnig & Single-Cell! 🧬 A recent article from The American Journal of Human Genetics presents STIGMA, a single-cell tissue-specific gene prioritization tool using machine learning". This study marks a significant leap in our quest to understand human disease genetics. 🔵 Despite advancements in clinical exome and genome sequencing, many genes are still uncharacterized, posing challenges in linking genetic variants to diseases. 🟡 STIGMA (Single-cell tissue-specific gene prioritization using machine learning), a novel method leveraging single-cell RNA-seq data to prioritize genes in rare congenital diseases. 🟠 STIGMA's approach is unique: it learns the dynamics of gene expression across different cell types during the development of healthy organs. 🟢 Its ability to discern gene expression heterogeneity across cell populations positions STIGMA as an invaluable tool for uncovering disease-associated genes and causal variants in genetic disorders. 📚 The American Journal of Human Genetics paper: https://buff.ly/49pQLAR 👩💻 GitHub: https://buff.ly/3TbbzGn 📢 Join the Conversation 📢  Share your thoughts, methods, and tools in the comments! 👇 💬 #Genetics #Bioinformatics #MachineLearning #STIGMA #HumanGenetics #CongenitalDiseases #GeneSequencing #PharmaInnovation

10000 genome project aimed to create a genetic map of the contry to understand the nature of complex genetic diseases, this will accelerate the personal medicine growth and genetic research in India

What is genetics in simple words? What is Genetics? Genetics is the study of how genes and how traits are passed down from one generation to the next. Our genes carry information that affects our health, our appearance, and even our personality! GENetics is where it all begins. https://lnkd.in/d6aFGGj9. Can genetics be changed in humans? Human genome editing technologies can be used on somatic cells (non-heritable), germline cells (not for reproduction) and germline cells (for reproduction). Application of somatic human genome editing has already been undertaken, including in vivo editing, to address HIV and sickle-cell disease, for example. https://lnkd.in/dx4gQ2ys What happens if a gene changes? By changing a gene's instructions for making a protein, a variant can cause a protein to malfunction or to not be produced at all. When a variant alters a protein that plays a critical role in the body, it can disrupt normal development or cause a health condition. https://lnkd.in/d26f3ZzE. What happens if you change one gene? If a gene contains a change, it disrupts the gene message. Changes in genes can cause a wide range of conditions. Sometimes a changed gene is inherited, which means it is passed on from parent to child. Changes in genes can also occur spontaneously. https://lnkd.in/dGGFRye2. Can your genes be changed? Genome editing is a method for making specific changes to the DNA of a cell or organism. It can be used to add, remove or alter DNA in the genome. Human genome editing technologies can be used on somatic cells (non-heritable), germline cells (not for reproduction) and germline cells (for reproduction). https://lnkd.in/dx4gQ2ys What drugs are used to change DNA? In 2003, Gendicine became the first gene therapy to receive regulatory approval. Since that time, further gene therapy drugs were approved, such as Glybera (2012), Strimvelis (2016), Kymriah (2017), Luxturna (2017), Onpattro (2018), Zolgensma (2019), Abecma (2021), Adstiladrin, Roctavian and Hemgenix (all 2022).

#Epigenetic #editing #cuts #cholesterol 🧫✂️🧬 An #alternative to #genome editing can effectively lower cholesterol levels in #mice without cutting #DNA. #Scientists changed each animal’s #epigenome, the collection of chemical tags that are bound to DNA and affect the activity of a #gene. Within a month of #treatment, the animals’ cholesterol levels fell and stayed low nearly a year on. The findings bolster the case for editing the epigenome to treat certain #diseases rather than using genome editing techniques such as #CRISPR that #irreversibly alter DNA. https://lnkd.in/euVtpw9t

Fake IDs? Widespread misannotation of DNA transposons as a general transcription factor Accurate annotation of genes and transposable elements (TEs) is vital for understanding genomes, but current annotation pipelines often misannotate TEs as genes. This study reveals how the general transcription factor II-I repeat domain-containing protein 2 (GTF2IRD2) erroneously annotated DNA transposons in non-mammalian species, as it contains a 3′ fused hAT transposase domain. We also demonstrate the generality of this problem by identifying misannotated TEs as genes in other vertebrate genomes. Such misannotations can lead to errors in phylogenetic analyses and wasted time for investigators. The study proposes adding a final TE-check to gene annotation pipelines to mitigate this problem. https://lnkd.in/dyPR58he #TEsVsGenes #GTF2IRD2 #hATTransposase #GeneAnnotation #TECheck

Hey connections...👋 An article about Genome edition Genome editing, or genome engineering, or gene editing, is a type of genetic engineering in which DNA is inserted, deleted, modified or replaced in the genome of a living organism. Unlike early genetic engineering techniques that randomly insert genetic material into a host genome, genome editing targets the insertions to site-specific locations. The basic mechanism involved in genetic manipulations through programmable nucleases is the recognition of target genomic loci and binding of effector DNA-binding domain (DBD), double-strand breaks (DSBs) in target DNA by the restriction endonucleases (FokI and Cas), and the repair of DSBs through homology-directed recombination (HDR) or non-homologous end joining (NHEJ). A common form of Genome editing relies on the concept of DNA double stranded break (DSB) repair mechanics. There are two major pathways that repair DSB; non-homologous end joining (NHEJ) and homology directed repair (HDR). NHEJ uses a variety of enzymes to directly join the DNA ends while the more accurate HDR uses a homologous sequence as a template for regeneration of missing DNA sequences at the break point. This can be exploited by creating a vector with the desired genetic elements within a sequence that is homologous to the flanking sequences of a DSB. This will result in the desired change being inserted at the site of the DSB. While HDR based gene editing is similar to the homologous recombination based gene targeting, the rate of recombination is increased by at least three orders of magnitude. #snsinstitution #snsdesignthinkers #designthinking