National Human Genome Research Institute (NHGRI)’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

If you are interested in prime editing, in this manuscript, we optimized a prime editing workflow to efficiently edit hiPSCs and create isogenic models for retinal diseases, using a combinatorial PE strategy to enhance editing efficiency.

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

Even with the remarkable similarities among all human genome sequences, it is not appropriate to use a single, or even a few, reference genome sequences to represent all people.      By having a larger collection of reference genome sequences (which can be used to construct a pangenome reference that better represents the many different human populations), researchers will be able to more accurately and more completely detect genomic variants in all people.        Most importantly, a high-quality human pangenome reference will help researchers gain a more-complete understanding about the links between genomic variation and human disease in all populations.      Human Pangenome Reference Consortium is generating a large set of reference human genome sequences (for use in constructing a pangenome reference), which will be more accurate and more diverse than anything previously available. The group aims to reach 350 reference human genome sequences this year.    I encourage you to learn more about NHGRI’s efforts to develop a human pangenome reference! https://lnkd.in/emsMwG7z 

Explore the intricate realm of Genomic Mutations, their impacts on health, and advances in detection and management strategies. https://lnkd.in/gq3TqEwY #apgxa #pgx #pharmacogenomics #genomics #mutations #genomicmutations #omics

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

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

Explore the intricate realm of Genomic Mutations, their impacts on health, and advances in detection and management strategies. https://lnkd.in/gm-3F6FS #apgxa #pgx #pharmacogenomics #genomics #mutations #genomicmutations #omics

One of the early goals of the Human Genome Project was to develop high-quality genetic maps of each human chromosome. Genetic maps are used by researchers to search for genes that, when mutated, can cause human disease. Researchers have used genetic mapping to implicate specific genes for many rare inherited disorders, including cystic fibrosis and Huntington's disease. Scientists also use genetic maps to identify genes that may play a role in more common disorders such as heart disease. I encourage you to learn more about genetic mapping! https://lnkd.in/eYakKi2E