Hitachi’s Post

Researchers at Massachusetts Institute of Technology have performed the broadest analysis yet of the genomic, epigenomic, and transcriptomic changes that occur in every cell type in the #brains of #Alzheimer’s patients. Read more here

A group of researchers did their part to #EndAlz by characterizing the epigenomic, genomic, transcriptomic, and cellular underpinnings of #Alzheimers disease at the #singlecell level. See how they did it in our new blog, and spread the word for #AlzheimersAwareness month!

📍 Ever wondered about the power behind decoding a genome? How vital is decoding its secrets and unlocking insights through genomic variant interpretation? 📍How challenging is it to diagnose rare diseases, and how can Artificial Intelligence (AI) assist in interpreting variants to aid in diagnosis? Please read our blog explored these questions regarding genome interpretation and artificial intelligence. https://lnkd.in/dCKpSiTQ #raredisease #genomics #artificialintelligence

Nature Methods recently published a study that introduces the PanGenome Research Tool Kit (PGR-TK), a scalable computational analysis platform that overcomes the limitations of other visualization graphs to unravel and visualize the most complex regions of the human genome, which are often linked to clinically relevant variants.   For many individuals with rare and undiagnosed diseases, a standard genetic test may not provide an answer, as the disease-causing variant may not be present in the reference genome. However, with access to a diverse panel of genomes, clinicians and researchers will have a greater chance of identifying rare disease-causing variants.   Learn more: https://genedx.co/3NuETnl

Scientists identify genes linked to DNA damage and human disease The work, published in Nature, provides insights into cancer progression and neurodegenerative diseases as well as a potential therapeutic avenue in the form of a protein inhibitor. The genome contains all the genes and genetic material within an organism’s cells. When the genome is stable, cells can accurately replicate and divide, passing on correct genetic […] https://lnkd.in/d7gH85R7 Cyprus-CEO #CEO #business #management #marketing #tech #AI #legal #money

Scientists identify genes linked to DNA damage and human disease The work, published in Nature, provides insights into cancer progression and neurodegenerative diseases as well as a potential therapeutic avenue in the form of a protein inhibitor. The genome contains all the genes and genetic material within an organism’s cells. When the genome is stable, cells can accurately replicate and divide, passing on correct genetic […] https://lnkd.in/d7gH85R7 Cyprus-CEO #CEO #business #management #marketing #tech #AI #legal #money

Exciting news with exa-cel possibly becoming the first CRISPR gene-edited therapy approved by Dec. 8. Patients face not only the promise of transformative health but also profound questions about identity and fairness. As pioneers in this genetic medicine era, their experiences prompt essential discussions on the ethical and emotional implications of altering one's genes. What are your thoughts on the potential psychological impact? 🤔 #GeneEditing #CRISPR #GeneticMedicine #HealthcareInnovation

“That, for me, personally, was one of those watershed moments. Okay, this is going to happen.” - Innovative Genomics Institute founder and #CRISPR pioneer Jennifer Doudna in conversation with Sarah Zhang at The Atlantic who goes on to write: "And now, it has happened. Gray and patients like her are living proof of gene-editing power. Sickle-cell disease is the first disease—and unlikely the last—to be transformed by CRISPR." For more, read the excellent article aptly titled "The CRISPR Era Is Here": https://lnkd.in/gkjhynkj

An American research team led by Jennifer Doudna from Innovative Genomics Institute at University of California, Berkeley, has demonstrated genome editing in the mouse brain through transient delivery of minimally immunogenic CRISPR-Cas9 ribonucleoproteins (RNPs). The research aimed to overcome viral vector-based delivery - including cargo capacity, immunogenicity, and cost - by testing the ability of cell penetrant Cas9 RNPs to edit the mouse striatum with a convection-enhanced delivery system. Results demonstrated that the transient Cas9 RNPs showed comparable editing of neurons and reduced adaptive immune responses relative to one formulation of Cas9 delivered using AAV serotype 9. #crispr #geneediting #geneomeediting #crisprmedicine #brain #centralnervoussystem  https://lnkd.in/evcgFXaq