{"paper_id":"20fc4a23-ea64-4666-9ec0-961502890363","body_text":"Summary\nInherited retinal diseases (IRDs) are rare disorders, typically presenting as Mendelian traits, that result in stationary or progressive visual impairment. They are characterized by extensive genetic heterogeneity, possibly the highest among all human genetic diseases, as well as diverse inheritance patterns. Despite advances in gene discovery, limited understanding of gene function and challenges in accurately interpreting variants continue to hinder both molecular diagnosis and genetic research in IRDs. One key problem is the absence of a comprehensive and widely accepted catalogue of disease genes, which would ensure consistent genetic testing and reliable molecular diagnoses. With the rapid pace of IRD gene discovery, gene catalogues require frequent validation and updates to remain clinically and scientifically useful. To address these gaps, we developed RetiGene, an expert-curated gene atlas that integrates variant data, bulk and single-cell RNA sequencing, and functional annotations. Through the integration of diverse data sources, RetiGene supports candidate gene prioritization, functional studies, and therapeutic development in IRDs.\nThe authors have declared no competing interest.\nFunder Information Declared\nGhent University Special Research Fund, BOF22/DOC/229\nResearch Foundation - Flanders, https://ror.org/03qtxy027, 1SD8924N, 11PS324N, G0ACQ24N\nCentro de Investigación Biomédica en Red (CIBER)\nInstituto de Salud Carlos III, https://ror.org/00ca2c886, CP22/00028, PI22/01371, PI22/00321, PI22/00213, AC21_2/00022, FORT23/00021\nHORIZON programme, HORIZON-HLTH-2023-TOOL-05-04, BETTER, PI22/01371\nFoundation Fighting Blindness Project Program Award, PPA-0622-0841-UCL\nCentro de Investigación Biomédica en Red Enfermedades Raras, 06/07/0036\nIIS-FJD BioBank, PT13/0010/0012\nOrganización Nacional de Ciegos Españoles, https://ror.org/058cmwb06\nEuropean Regional Development Fund\nUniversity Chair UAM-IIS-FJD of Genomic Medicine\nFondazione Telethon, PE00000006, CUP H93C22000660006-MNESYS\nFoundation Fighting Blindness USA, BR-GE-0120-0775-LUMC\nRP Fighting Blindness and Fight for Sight UK, RP Genome Project GR586\nThe Montreal Children's Hospital Foundation\nThe Vision Sciences Research Network\nThe National Institutes of Health, R01 EY030499-01, Dr. Lentz, UG1EY033286, UG1EY033293, UG1EY033286, UG1EY033292\nThe Canadian Institutes for Health Research\nFighting Blindness Canada\nFonds de Recherche du Québec - Santé\nthe Generalitat Valenciana, CIPROM/2023/26\nSwiss National Science Foundation, 204285","source_license":"CC-BY-4.0","license_restricted":false}