Exciting new gene editing technique from the lab of Alexis Komor at UC San Diego. "Current methods to model or correct mutations in live cells are inefficient, especially when multiplexing — installing multiple point mutations simultaneously across the genome. Researchers from the University of California San Diego have developed new, efficient genome editing tools called multiplexed orthogonal base editors (MOBEs) to install multiple point mutations at once. ... Instead of CRISPR, Komor’s lab uses a base-editing technique she developed, which makes a chemical change to the DNA, although only one type of edit (C to T or A to G, for example) can be made at a time. So rather than scissors that cut out an entire section at once, base-editing erases and replaces one letter at a time. It is slower, but more efficient and less harmful to cells." https://lnkd.in/gYBD5Dks
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🚨 We’re excited to share our first FES-Forward blog post! 🚨 In the first part of a four part series focused on complex DNA sequences we delve into the challenges of synthesizing repetitive DNA sequences—an essential yet often problematic component in genomic research. Repetitive sequences play crucial roles in gene regulation, chromosome structure, and genome stability, but they also present significant obstacles in DNA synthesis and assembly. In this post, we explore innovative solutions that overcome these challenges, making it easier to work with complex sequences like those found building AAV vectors, regulatory elements, and cell models to study disorders associated with repeat expansion. Read the full post to learn more: https://lnkd.in/gb8gNcf5 #SyntheticBiology #Genomics #DNASynthesis #GeneTherapy #Innovation #AAV #Biotech #CRISPR #DNAuncompromised #DNA #FES #synbio #geneediting
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After exploring into a fascinating paper, I’m compelled to share a discovery that challenges our understanding of genetics and could have profound implications for future genetic therapies. The study reveals that bacteria defy the long-held belief that genes are strictly linear and chromosome-bound. Instead, these microorganisms can create free-floating, transient genes—raising the intriguing possibility that similar extrachromosomal genes might exist in humans. If such genes are found in our cells, it would be a revolutionary breakthrough, suggesting that critical genetic information might exist outside of the 23 human chromosomes. These genes could be produced in specific environments or developmental contexts, offering new insights into our physiology. The research team is now applying these findings to search for extrachromosomal genes in humans. With thousands of reverse transcriptase genes in the human genome still shrouded in mystery, this work has the potential to uncover groundbreaking aspects of human biology and open up new avenues for genetic therapies. #Genome #Genetics #Science #Genes Tang, S., Conte, V., Zhang, D. J., Žedaveinytė, R., Lampe, G. D., Wiegand, T., Tang, L. C., Wang, M., Walker, M. W. G., George, J. T., Berchowitz, L. E., Jovanovic, M., & Sternberg, S. H. (2024). De novo gene synthesis by an antiviral reverse transcriptase. bioRxiv : the preprint server for biology, 2024.05.08.593200. https://lnkd.in/eY75qvEq
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🧬 Rare Genetic Diseases: Understanding the Unseen Challenges 🧬 Genetic diseases may be rare, but their impact on patients and families is profound. With advancements in molecular biology and genetic research, we’re uncovering new insights into how these conditions arise and how we might treat or even prevent them. 🔍 What are Rare Genetic Diseases? They are disorders caused by mutations in a single gene, often inherited and affecting fewer than 1 in 2,000 people. Examples include cystic fibrosis, Tay-Sachs disease, and Huntington's disease. 📊 The Importance of Research Despite being rare, studying these diseases can help: Improve diagnostic techniques. Develop targeted therapies through gene therapy. Understand more common diseases due to shared genetic pathways. 🔬 The Role of Molecular Biology From DNA sequencing to CRISPR gene editing, molecular biology tools are vital in identifying genetic mutations, understanding their effects, and paving the way for personalized medicine. 🌍 Together, let’s support ongoing research and innovation to bring hope to those affected by rare genetic diseases. Every breakthrough counts! #MolecularBiology #GeneticResearch #RareDiseases #PersonalizedMedicine #GeneTherapy
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Researchers have developed a new genetic system to test and analyze the mechanisms underlying the results of CRISPR-based DNA repair. As described in Nature Communications, they have developed a sequence analyzer to help track on- and off-target mutational changes and how they are inherited from one generation to the next. The tool, called Integrated Classifier Pipeline (ICP), can reveal specific categories of mutations resulting from CRISPR editing. Developed in flies and mosquitoes, ICP provides a "fingerprint" of how genetic material is inherited, enabling scientists to track the source of mutational changes and the associated risks emerging from potentially problematic modifications. PKI can help unravel the complex biological issues that arise when determining the mechanisms behind CRISPR. Although developed in insects, ICP has great potential for human applications.
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Researchers have developed a new genetic system to test and analyze the mechanisms underlying the results of CRISPR-based DNA repair. As described in Nature Communications, they have developed a sequence analyzer to help track on- and off-target mutational changes and how they are inherited from one generation to the next. The tool, called Integrated Classifier Pipeline (ICP), can reveal specific categories of mutations resulting from CRISPR editing. Developed in flies and mosquitoes, ICP provides a "fingerprint" of how genetic material is inherited, enabling scientists to track the source of mutational changes and the associated risks emerging from potentially problematic modifications. PKI can help unravel the complex biological issues that arise when determining the mechanisms behind CRISPR. Although developed in insects, ICP has great potential for human applications.
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I am excited to announce that my previous work at the Carthew Lab has been published in the journal of Genetics, titled "Robust and heritable knockdown of gene expression using a self-cleaving ribozyme in Drosophila." We engineered a novel toolkit for genetic manipulation in the model organism Drosophila melanogaster. Using self-cleaving ribozymes, we developed a powerful approach for gene knockdown. This method has potential applications in studying noncoding RNAs, nuclear-localized RNAs, and specific splice variants of protein-coding genes. https://lnkd.in/eTG7dyCk
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Third-Gen Sequencing: The Future of Genomics Third-gen sequencing is transforming genomics with breakthroughs in speed, accuracy, and personalization. Here’s how it’s leading the next wave of genetic advancements: 1️⃣ Real-Time Methylation Detection 🧬 Now, methylation patterns can be identified on-the-fly, we can learn more about gene regulation. 2️⃣ Single-Molecule Sensitivity 🔍 No amplification needed—analyzes DNA directly for rare variant detection, enhancing precision. 3️⃣ Longer Read Lengths 📏 Reads spanning thousands to millions of bases streamline analysis of complex regions. 4️⃣ Rapid Pathogen Identification 🦠 Ideal for fast clinical diagnostics, from hospital infections to outbreak tracking. 5️⃣ Advances in Personalized Medicine 💊 Personalized treatments are now within reach, transforming cancer care and genetic disorder management. The genomics future is here—fast, precise, and incredibly insightful! 💥 #ThirdGenSequencing #GenomicsRevolution #PrecisionMedicine #Genetics #sequencing
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🔬 Breaking Ground in Genetic Disease Treatment at UChicago! 🧬Researchers at the University of Chicago are pioneering a novel treatment for genetic disorders using engineered transfer RNA (tRNA) to correct missense mutations. This cutting-edge approach leverages tRNA, a key molecule in translating genetic codes into proteins, to accurately target and fix the erroneous genetic "letters" responsible for producing defective proteins. Lead researcher Yichen Hou and the team have developed "missense-correcting tRNAs" (mc-tRNAs), which carry the correct protein building blocks despite the genetic miscode, offering a potential new platform for treating a broad spectrum of genetic diseases without the drawbacks associated with current gene editing technologies like CRISPR. This innovative strategy could dramatically change how we approach genetic therapy, providing a safer, more precise alternative. #GeneticTherapy #Innovation #UChicago #HealthcareTech
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🧬 How Are Gene Mutations Classified? 🧬 In genetics, not all mutations are created equal. Classifying gene mutations is essential to understanding their potential impact on health and guiding diagnosis and treatment. Here's an overview: 🔎 Key Classifications of Gene Mutations: 1️⃣ Pathogenic Variants: Known to cause disease and are often the primary focus for therapy development. 2️⃣ Likely Pathogenic Variants: Strong evidence suggests they contribute to disorders, treated similarly to pathogenic variants in clinical care. 3️⃣ Variants of Uncertain Significance (VUS): Genetic changes with unclear health impacts, requiring further research. 4️⃣ Likely Benign Variants: Evidence suggests they don't cause disease but with less certainty than benign variants. 5️⃣ Benign Variants: Common changes in the population that don’t affect protein function or cause disease. 🔬 Why It Matters Gene classifications guide clinicians and researchers in diagnosing genetic conditions, developing targeted therapies, and improving patient care. The field evolves rapidly—what is uncertain today might provide critical insights tomorrow. In STXBP1-related disorders, accurate classification of mutations helps us better understand the mechanisms of the disease and develop therapies tailored to individual genetic profiles. At Rafa’s Moonshot, we’re committed to unraveling these complexities to bring hope and solutions to families navigating STXBP1. Every step forward brings us closer to breakthroughs that matter. ✨ #Genetics #RareDiseases #STXBP1Research #RafasMoonshot #GeneticTesting
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The IGVF (Impact of Genomic Variation on Function) Consortium is a collaborative effort to systematically map how genomic variation influences genome function and phenotypes. The consortium will combine approaches in single-cell mapping, genomic perturbations, and predictive modeling to create comprehensive maps across hundreds of cell types and states. These maps will describe how coding variants alter protein activity, how noncoding variants change gene regulation, and how these effects connect through gene regulatory and protein interaction networks. The experimental data, computational predictions, and accompanying standards and pipelines will be integrated into an open resource to enable further exploration of the relationships between genomes, biology, and disease across populations. #clinicalgenetics #clinicalgenomics #genomicmedicine #healthcare #humangenetics #medicalgenetics #medicine
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