Publications by authors named "Joana Ferreira-Silva"
Article Synopsis
- Genetic vascular disorders, particularly multisystemic smooth muscle dysfunction syndrome (MSMDS), result from mutations in the alpha actin isotype 2 gene and can lead to severe health issues such as stroke and early childhood death.
- The research focused on correcting the common R179H mutation using a specially engineered CRISPR-Cas9 enzyme designed for high accuracy, decreasing unintended edits during the gene correction process.
- By utilizing a murine model that mimics human MSMDS symptoms, the study demonstrated that delivering the customized editing tool significantly improved survival and health outcomes in affected mice, indicating potential for lasting treatments in humans.
Genome editing technologies that install diverse edits can widely enable genetic studies and new therapeutics. Here we develop click editing, a genome writing platform that couples the advantageous properties of DNA-dependent DNA polymerases with RNA-programmable nickases (e.g.
View Article and Find Full Text PDFGlaucoma is a progressive chronic retinal degenerative disease and a leading cause of global irreversible blindness, characterized by optic nerve damage and retinal ganglion cell (RGC) death. Elevated intraocular pressure (IOP) is a main risk factor of glaucoma. Neuroinflammation plays an important role in glaucoma.
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