Alba Ortega Gascó’s Post

Take a look at our latest article featuring a pipeline to safely generate isogenic models of disease using #primeediting and #hiPSC. Ocular Genomics Institute Massachusetts Eye and Ear Harvard Medical School

The genetic background of a model may contain additional variants that contribute to the disease and complicate phenotype rescue. In this manuscript, we utilize prime editing technology to safely introduce point mutations into hiPSCs and generate isogenic disease models. With our optimized system, we successfully address the low efficiency typically observed in hiPSCs. Learn more here:  https://lnkd.in/efyuKP_i

In this manuscript, we present a prime editing platform to efficiently edit hiPSCs and generate isogenic models for inherited retinal diseases. To address the challenge of low editing efficiency in hiPSCs, we introduce a combinatorial strategy of PE component ratios, enabling the identification of optimal parameters to enhance editing efficiency and support the generation of isogenic hiPSC lines. iPS Research Lab Ocular Genomics Institute Massachusetts Eye and Ear Harvard Medical School

Great new work out from Evan Eichler's group in Seattle using long-read sequencing to delve into the complexity of the mucin genes MUC5AC/MUC5B of which we can only scratch the surface using short-reads of SNP arrays. Nice to see also that they start to link disease associated alleles in MUC5AC to different haplogroups, including the MUC5AC pneumonia susceptibility genetic signal that we discovered back in 2021 (PMID: 35768473). Will be particularly interesting to see going forward how factors such as repeat length in mucins, which is known to impact their glycosylation and interaction with fluids, influence their role in disease. Full article here: https://lnkd.in/gy2n-rNN

Each person has several million genomic variants and only a very small subset of these variants play a role in human health and disease — but which ones? How genomic variations affect genome function and in turn influence human traits is challenging to study partly because of the sheer number of genomic variants that have been identified. To understand the functional effects of genomic variation, NHGRI launched a consortium in 2021 called Impact of Genomic Variation on Function (IGVF). Learn more! https://lnkd.in/e57KDmy7

🧬Genome-wide association studies of parasite resistance, productivity and immunology traits in Scottish Blackface sheep🐑 The aim of this study was to assess the genetic architecture underlying traits associated with gastrointestinal parasite resistance, immunological profile and production in meat sheep, and identify and characterise candidate genes affecting these traits. 🔎Read the article here👇 https://lnkd.in/djyrwCc9

Check out the latest blog from our occupiers, OGT! Grasping the relationship between sequencing depth and Variant Allele Frequency (VAF) sensitivity is crucial for maximising the effectiveness of Next-Generation Sequencing (NGS). In OGT's latest blog, they explain how this relationship impacts the accurate detection of genetic variants—particularly in applications like Measurable Residual Disease (MRD) detection as well as providing insights on how to optimise your sequencing approach for greater precision in variant analysis. Read the full blog here 👇 https://lnkd.in/eb6JAwfi #occupiers #sequencingdepth #VAF #NGS #MRD

Research reveals that genetic makeup significantly influences sepsis response, suggesting treatments could be based on immune response rather than symptoms. Conducted by the Wellcome Sanger Institute and University of Oxford, the study identifies genetic regulators and cell types involved in sepsis. This paves the way for personalised therapies and rapid tests to improve treatment outcomes. Learn more: https://iii.hm/1r18 #PersonalisedMedicine #Genomics #Sepsis

Did you know that around 80% of rare diseases are of genetic origin and, of those, 70% start in childhood? Rare genetic diseases are often caused by mutations in genes, impacting various aspects of health and development—just like in our case. We are committed to delving into the genetic roots of v-ATPase conditions and exploring how advances in genetic research are paving the way for improved diagnosis and treatment options. We believe progress is possible, but we cannot do it alone. Consider helping us getting there. #factfriday #GeneticResearch #UnderstandingGenetics #RareDiseaseGenetics #vATPase #rarediseaseawareness

1 in 10 people are impacted by a rare genetic disease, yet 50% remain unclassified despite increases in genetic testing. Read how in a recent study, researchers at the University of California, Santa Cruz overcame this gap by utilising long #nanopore reads to reveal more genetic information behind unsolved disease cases. Discover how this could offer a single, cost-effective, and rapid solution to identify rare diseases in the future. https://bit.ly/4aSleZX