Linda's first author review on scRNAseq in IRDs is accepted!

As she enters her final lap ahead of her thesis submission, this is Linda’s definitive review on the application of single-cell transcriptomics in inherited retinal dystrophies (IRDs) to explore how these techniques enhance our understanding of disease mechanisms and contribute to the identification of new therapeutic targets. IRDs represent a diverse group of disorders caused by mutations in genes essential for retinal function and maintenance. Traditional bulk RNA sequencing techniques provide valuable information for deciphering disease pathogenesis but lack the resolution to capture variation among specific cell clusters during disease progression. In contrast, single-cell transcriptomics, including single-cell RNA sequencing (scRNA-seq), enables detailed examination of distinct retinal clusters in both healthy and diseased states, uncovering unique gene expression signatures and early molecular changes preceding photoreceptor cell death in IRDs. They help our understanding of the complex pathogenesis of IRDs but also highlight potential targets for novel therapeutic interventions.

Congratulations to Linda! Part of the Special Issue on Genetics of Retinal Diseases in Genes, the review is avaliable here: https://www.mdpi.com/2073-4425/16/9/1088