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Informative Article | Genetics | Volume 15 Issue 3, March 2026 | Pages: 322 - 325 | India
Gene Editing and Single-Cell Transcriptomic Profiling in Hereditary Hearing Loss: Pathology-Relevant Advances in iPSC-Derived Cochlear Models
Abstract: Hereditary hearing loss is increasingly being studied through patient-derived induced pluripotent stem cell (iPSC) systems, genome editing platforms, and single-cell transcriptomic analyses. For a pathology audience, the central value of these technologies is not only therapeutic promise but also their ability to model disease mechanisms, define genotype-phenotype correlations, and validate variant pathogenicity in human tissue-relevant systems. We reviewed English-language literature published mainly from January 2023 to February 2026, prioritizing primary studies and high-quality reviews on iPSC-derived inner ear organoids, CRISPR-based correction strategies, and single-cell RNA sequencing in auditory research. Recent work shows that human pluripotent stem cell-derived inner ear organoids can reproducibly generate hair cell-like and supporting cell-like populations, although most systems still display vestibular bias and fetal-stage immaturity. In parallel, gene therapy and precision editing studies, especially in OTOF- and MPZL2-related deafness, have provided compelling preclinical and early clinical proof of concept for hearing rescue. Single-cell RNA sequencing has become indispensable for benchmarking organoid identity, mapping differentiation trajectories, and demonstrating transcriptomic rescue after correction of pathogenic variants. The most realistic near-term application of this integrated platform is translational disease modeling, variant validation, and therapy prioritization rather than immediate cell replacement. Future work must improve cochlear specification, maturation, functional validation, delivery strategies, and long-term safety before routine clinical deployment becomes feasible.
Keywords: hereditary hearing loss; inner ear organoid; induced pluripotent stem cell; CRISPR; single-cell RNA sequencing; translational pathology
How to Cite?: Harshad, "Gene Editing and Single-Cell Transcriptomic Profiling in Hereditary Hearing Loss: Pathology-Relevant Advances in iPSC-Derived Cochlear Models", Volume 15 Issue 3, March 2026, International Journal of Science and Research (IJSR), Pages: 322-325, https://www.ijsr.net/getabstract.php?paperid=SR26302111519, DOI: https://dx.dx.doi.org/10.21275/SR26302111519