RetiGene, a comprehensive gene atlas for inherited retinal diseases

Carlo Rivolta; Elifnaz Celik; Dhryata Kamdar; Francesca Cancellieri; Karolina Kaminska; Mukhtar Ullah; Pilar Barberán-Martínez; Manon Bouckaert; Marta Cortón; Emma Delanote; Lidia Fernández-Caballero; Gema García García; Lara K. Holtes; Marianthi Karali; Irma Lopez; Virginie G. Peter; Nina Schneider; Lieselot Vincke; Carmen Ayuso; Sandro Banfi; Beatrice Bocquet; Frauke Coppieters; Frans P.M. Cremers; Chris F. Inglehearn; Takeshi Iwata; Vasiliki Kalatzis; Robert K. Koenekoop; José M. Millán; Dror Sharon; Carmel Toomes; Mathieu Quinodoz

doi:10.1016/j.ajhg.2025.08.017

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RetiGene, a comprehensive gene atlas for inherited retinal diseases

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RetiGene, a comprehensive gene atlas for inherited retinal diseases

Carlo Rivolta, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kaminska, Mukhtar Ullah, Pilar Barberán-Martínez, Manon Bouckaert, Marta Cortón, Emma Delanote, …

American journal of human genetics, Vol.112(10), pp.2253-2265

02/10/2025

DOI: https://doi.org/10.1016/j.ajhg.2025.08.017

PMID: 40961941

Résumé

database

inherited retinal diseases

IRD

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 catalog of disease-associated genes, which would ensure consistent genetic testing and reliable molecular diagnoses. With the rapid pace of IRD gene discovery, gene catalogs 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. RetiGene is an expert-curated atlas of genes involved in inherited retinal diseases, integrating variant data and gene expression. This open-access, continually updated resource aims to support variant interpretation, gene panel design, and future therapeutic research.

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Détails

Titre: RetiGene, a comprehensive gene atlas for inherited retinal diseases
Créateurs - sans rôle: Carlo Rivolta - Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel 4031, Switzerland
Elifnaz Celik - Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel 4031, Switzerland
Dhryata Kamdar - Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel 4031, Switzerland
Francesca Cancellieri - Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel 4031, Switzerland
Karolina Kaminska - Institute of Molecular and Clinical Ophthalmology Basel
Mukhtar Ullah - Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel 4031, Switzerland
Pilar Barberán-Martínez - Molecular, Cellular, and Genomic Biomedicine Group, IIS-La Fe, Valencia 46026, Spain
Manon Bouckaert - Center for Medical Genetics Ghent, Ghent University, Ghent 9000, Belgium
Marta Cortón - Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain
Emma Delanote - Center for Medical Genetics Ghent, Ghent University, Ghent 9000, Belgium
Lidia Fernández-Caballero - Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain
Gema García García - Molecular, Cellular, and Genomic Biomedicine Group, IIS-La Fe, Valencia 46026, Spain
Lara K. Holtes - Radboud University Medical Center
Marianthi Karali - Department of Precision Medicine, Medical Genetics, Università degli Studi della Campania "Luigi Vanvitelli", Naples 80138, Italy
Irma Lopez - McGill University
Virginie G. Peter - Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel 4031, Switzerland
Nina Schneider - Department of Ophthalmology, Hadassah Medical Center, The Hebrew University of Jerusalem, Jerusalem 91120, Israel
Lieselot Vincke - Center for Medical Genetics Ghent, Ghent University, Ghent 9000, Belgium
Carmen Ayuso - Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain
Sandro Banfi - Studi
Beatrice Bocquet - Université de Montpellier
Frauke Coppieters - Ghent University
Frans P.M. Cremers - Radboud University Medical Center
Chris F. Inglehearn - University of Leeds
Takeshi Iwata - Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo 152-8902, Japan
Vasiliki Kalatzis - Université de Montpellier
Robert K. Koenekoop - McGill University
José M. Millán - Molecular, Cellular, and Genomic Biomedicine Group, IIS-La Fe, Valencia 46026, Spain
Dror Sharon - Hebrew University of Jerusalem
Carmel Toomes - University of Leeds
Mathieu Quinodoz - Institute of Molecular and Clinical Ophthalmology Basel
Détails de publication: American journal of human genetics, Vol.112(10), pp.2253-2265
Éditeur: Elsevier Inc
Nombre de pages: 13
Identifiants: 99139925909311
Unité académique: Institut des Neurosciences de Montpellier - INM
Langue: English
Type de ressource: Journal article