Andrés D. Klein’s Post

A genomic approach uncovers an FDA-approved drug for treating C9orf72-related ALS Repeat expansions in the C9orf72 gene are a major cause of ALS and FTD. Researchers used a genomic approach to analyze a large dataset of ALS patients and healthy controls to identify potential treatments for this complex disease. By matching gene and expression patterns and considering genetic variants influencing disease onset, they identified acamprosate, a GABA analog, as a promising drug candidate. Validation studies in cell models demonstrated acamprosate's neuroprotective effects, comparable to the current standard treatment, riluzole. This study underscores the power of genomics in drug repurposing, particularly in diseases with intricate mechanisms. The article was published in Cell Genomics:https://lnkd.in/e2XeERyP. #genetics #genomics #precisionmedicine #genomicmedicine #brain #neurology #neurodegeneration #neuroscience #neuroinflammation #als #drugrepurposing #fda #drugdiscovery #biotechnology #innovation #research #science #sciencecommunication

Emory University researchers uncover the pivotal role of the protein TDP-43 in neurodegenerative diseases like ALS and Alzheimer's. TDP-43, traditionally known for RNA binding, exhibits a broader genome-wide and epigenetic function, maintaining genomic stability. In its absence, "zombie" transposable elements activate, potentially causing DNA damage. The study suggests TDP-43 as a "guardian of the genome," vital for preventing harmful gene expression. Future research aims to validate these mechanisms in human diseases, offering potential therapeutic strategies. Read more: https://lnkd.in/dCvDsxah #protein #alzheimer #neuroscience #medical #biology

[Spatial Transcriptomics를 이용한 연구] 📌This paper uses spatial transcriptomics to map gene expression and cell interactions within tissues over time, aiding in understanding disease mechanisms. https://lnkd.in/gkdhvHqa https://lnkd.in/gn2NB7s2 : Presentation - Research on Adrenoleukodystrophy (ALD) with Spatial Transcriptomics analysis (4 minutes) 👉The paper presents a comparative study of healthy and diseased tissues using Spatial Transcriptomics. Reading this paper will amaze you with the technology that captures the meaning of spatiotemporal. I share this as it highlights the features of this technology used in finding biomarkers for research into treatments for rare genetic diseases (above video). #Adrenoleukodystrophy #neuroscience #bioinformatics #Spatial_Transcriptomics #Singlecell

🚀 New CRISPR Screen Method Revolutionizes Gene Function Study 🚀 Scripps Research has unveiled a groundbreaking CRISPR screen method that enhances our understanding of the genetic roots of human diseases. This innovative method, detailed in Cell Press uses an AAV-based, massively parallel in vivo Perturb-seq platform. It enables gene-expression-based characterization at single-cell resolution across various tissues and cell types. 🔬 Key Points: 🧬 Targets broad tissues and cell types 🧬 Surpasses current state-of-the-art efficacy 🧬 Analyzes over 30,000 cells in one experiment Dr. Xin Jin, PhD and team demonstrated its potential by studying embryonic brain development in mice, identifying crucial genetic networks. This advancement allows rapid genetic perturbation and detailed cell response analysis, paving the way for deeper insights into diseases and their treatments. 🌟 “Our new system can measure individual cells’ response after genetic perturbations, painting a picture of how different cell types react to mutations,” said Dr. Xin Jin, PhD Future applications could revolutionize our understanding of neuropsychiatric conditions and other diseases across various organs. Scripps Research Cell Press Xin Jin, PhD Xinhe Zheng #CRISPR #Genetics #ScrippsResearch #Biotechnology #Neuroscience #GeneEditing #MedicalResearch #Innovation #ScienceNews #CellBiology #HealthTech #GeneticResearch #medicalresearchnews

🚀 In a groundbreaking development, researchers at the Broad Institute of MIT and Harvard have engineered novel gene-delivery vehicle to effectively cross the blood-brain barrier and deliver therapeutic genes to the brain in humanized mice. Key advancements include: Operating with a human protein for gene delivery. Dramatically higher brain and spinal cord penetration compared to existing AAVs. Successful delivery of the GBA1 gene is linked to neurological conditions like Gaucher's, Parkinson's, and Lewy body dementia. This innovation could revolutionize treatment for debilitating brain diseases such as Rett syndrome, Huntington's, and ALS by targeting them at the genetic level. 💡 Imagine the potential impact on patients' lives. Could we see gene therapies transform treatments for brain diseases sooner than we think? #Molecular Biologist #GeneTherapy #BrainResearch #Neuroscience #MedicalInnovation #Healthcare #ScientificDiscovery #Genetics #BrainHealth #Medicine #Biotech #Neurodegeneration #ResearchBreakthrough #AAV #BroadInstitute #MIT #Harvard #HealthcareRevolution

The broken Alzheimer’s disease (AD) genome Genomics and other omics are instrumental to gain mechanistic insights about disease pathogenesis. Disruptions at the point where DNA and gene expression meet, which the authors term the "broken AD genome," provide detailed, quantitative evidence free from existing biases about the disease. These advancements not only reveal biological pathways beyond the well-known pathological hallmarks but have also invigorated drug discovery efforts and are leading to improved clinical tools. This article, published in Cell Genomics https://lnkd.in/e3bHM8up, reviews findings related to genetics, epigenetics, and gene expression in AD pathogenesis. It explores how integrating this data fosters a deeper understanding of the multicellular imbalances that contribute to this complex condition. These research milestones are opening doors to a future of personalized and predictive AD care. #genetics #genomics #epigenetics #epigenomics #precisionmedicine #genomicmedicine #alzheimer #aging #longevity #dementia #pathology #pathogenesis #dna #rna #brain #neurology #neurodegeneration #neuroscience #neurogenetics #biomarkers #omics #bioinformatics #drugdiscovery #therapeutics #biotechnology #innovation #research #science #sciencecommunication

🎥 Delve into cutting-edge #ParkinsonsDisease research with the B6-hSNCA Mouse Model. Parkinson's Disease (PD) and dementia with Lewy bodies are areas of focus for researchers utilizing the genetically engineered B6-hSNCA mice model. PD, characterized by dopaminergic neuron loss and diverse symptoms, is influenced by genetic factors such as the snca gene. 🧠 The B6-hSNCA model, enabling precise customization for therapeutic exploration, sheds light on disease pathways and potential treatments. With innovative strategies targeting Alpha-synuclein, this model proves pivotal for advancing PD research, supporting the development of novel interventions. Join the discussion on the impact of B6-hSNCA Mouse Model in Parkinson's Disease research. Share your thoughts below! 🎇 #parkinson #neuroscience #preclinical #preclinicalresearch #researchmatters #researchimpact #scienceandtechnology #biotech #biosciences #biology #biosciences

Exciting Discovery in Molecular Biology! In 2024, the scientific community witnessed a groundbreaking discovery in the field of genetics and molecular biology. Victor Ambros and Gary were awarded the Nobel Prize for their pivotal research on microRNAs and their role in post-transcriptional modifications. Their work has unlocked new insights into how gene expression is regulated after transcription, with profound implications for our understanding of cellular processes and disease mechanisms. This discovery not only advances basic science but also opens new avenues for therapeutic interventions, particularly in areas like cancer and genetic disorders. Congratulations to these remarkable scientists for pushing the boundaries of knowledge! #geneticengineering #genetics #molecularbiology

2024 Medicine Nobel was awarded for "the discovery of microRNA and its role in post-transcriptional gene regulation." The winners are Victor Ambros and Gary Ruvkun, two geneticists who discovered microRNAs, a class of single-stranded, non-coding RNA molecules containing 21 to 23 nucleotides. They are found in plants, animals, and some viruses, miRNAs are involved in RNA silencing and post-transcriptional regulation of gene expression. miRNAs are key molecules in development and promising biomarkers for various diseases, ranging from cancer to neurodegenerative conditions. https://lnkd.in/dDG8UH5r #genetics #genomics #precisionmedicine #genomicmedicine #rna #genes #nobelprize #generegulation #cancer #neurodegeneration #brain #neurology #neuroscience #neuroinflammation #metabolism #development #biomarkers #therapeutics #biotechnology #innovation #research #science #sciencecommunication

We designed ioCRISPR-Ready Cells™ to reduce the time you need to spend in the lab to generate gene knockouts and run CRISPR screens in human iPSC-derived cells! Test a vial in your lab: https://hubs.ly/Q02fZsk20 #research #DrugDiscovery #ScienceCommunication #optiox #ioCells #iPSC #neuroscience #CRISPR #screens #GenomeEditing #GeneEditing #HTS #neuron #array