Show Notes
️ Episode 141: RetiGene, a comprehensive gene atlas for inherited retinal diseases
In this episode of PaperCast Base by Base, we explore RetiGene, an expert-curated resource that consolidates genetic, transcriptomic, and functional information on inherited retinal diseases (IRDs). The study highlights the urgent need for a unified gene catalog to guide diagnosis and research in one of the most genetically heterogeneous groups of human disorders.
Study Highlights:
The authors identified and curated 470 genes strongly associated with IRDs, supported by extensive literature review, variant databases, and gene expression data. Another 196 genes were classified as candidate genes, while 17 were excluded due to insufficient or conflicting evidence. Phenotypic classification revealed associations across both syndromic and non-syndromic forms, with most genes showing autosomal recessive inheritance. Integration of bulk and single-cell RNA sequencing data revealed cell-type specificity of many genes, particularly in photoreceptors and retinal pigment epithelium, clarifying genotype-phenotype relationships. The database also distinguishes genes with solid evidence from those previously misattributed, providing a refined tool for diagnostics and research.
Conclusion:
RetiGene offers an updated, freely accessible gene atlas that improves genetic testing, supports functional studies, and enables future therapeutic development for inherited retinal diseases.
Reference:
Rivolta, C., Celik, E., Kamdar, D., Cancellieri, F., Kaminska, K., Ullah, M., Barberán-Martínez, P., Bouckaert, M., Cortón, M., Delanote, E., et al. (2025). RetiGene, a comprehensive gene atlas for inherited retinal diseases. *The American Journal of Human Genetics*, 112(10), 1–13. https://doi.org/10.1016/j.ajhg.2025.08.017
License:
This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/
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