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Single‐cell Analysis of RGC Development

Recent advances in single‐cell transcriptomics are paving the way for a comprehensive understanding of disease modeling in terms of cellular complexity and dysregulated genes/signaling pathways. Researchers led by Iqbal Ahmad (University of Nebraska Medical Center, Omaha, NE, USA) applied this approach to the generation of retinal ganglion cells (RGCs) from SIX6 risk allele glaucoma patient‐specific and healthy control induced pluripotent stem cells (iPSCs). Reporting in a recent STEM CELLS study, Teotia et al. found evidence for a flawed developmental trajectory in disease-specific iPSCs with immature and deficient subtype specification due to dysregulated mTOR and Notch signaling pathways. These findings shed light on the fidelity of RGC generation in vitro and the influence of the glaucoma risk allele on RGC development and subtype specification that may make RGCs susceptible to glaucomatous degeneration.