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Summary
Inherited 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.
The authors have declared no competing interest.
Funder Information Declared
Ghent University Special Research Fund, BOF22/DOC/229
Research Foundation - Flanders, https://ror.org/03qtxy027, 1SD8924N, 11PS324N, G0ACQ24N
Centro de Investigación Biomédica en Red (CIBER)
Instituto de Salud Carlos III, https://ror.org/00ca2c886, CP22/00028, PI22/01371, PI22/00321, PI22/00213, AC21_2/00022, FORT23/00021
HORIZON programme, HORIZON-HLTH-2023-TOOL-05-04, BETTER, PI22/01371
Foundation Fighting Blindness Project Program Award, PPA-0622-0841-UCL
Centro de Investigación Biomédica en Red Enfermedades Raras, 06/07/0036
IIS-FJD BioBank, PT13/0010/0012
Organización Nacional de Ciegos Españoles, https://ror.org/058cmwb06
European Regional Development Fund
University Chair UAM-IIS-FJD of Genomic Medicine
Fondazione Telethon, PE00000006, CUP H93C22000660006-MNESYS
Foundation Fighting Blindness USA, BR-GE-0120-0775-LUMC
RP Fighting Blindness and Fight for Sight UK, RP Genome Project GR586
The Montreal Children's Hospital Foundation
The Vision Sciences Research Network
The National Institutes of Health, R01 EY030499-01, Dr. Lentz, UG1EY033286, UG1EY033293, UG1EY033286, UG1EY033292
The Canadian Institutes for Health Research
Fighting Blindness Canada
Fonds de Recherche du Québec - Santé
the Generalitat Valenciana, CIPROM/2023/26
Swiss National Science Foundation, 204285
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