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European Retinal Disease Consortium

ERDC was initiated in 2008 to stimulate collaborations in the field of inherited retinal diseases (IRDs). IRDs show unprecedented clinical and genetic heterogeneity and have an overall frequency of approximately 1 in 3,000 individuals. The most frequently mutated IRD-associated gene, ABCA4, is mutated in ~1 in 10,000 individuals, but most IRD-associated genes are the cause of retinal disease in less than 1 in 100,000 persons. More than 289 genetic subtypes have been identified.

ERDC members meet twice a year to exchange genetic and clinical data of persons with IRDs. This collaboration has resulted in many joint papers to date.

A Marie Curie Initial Training Network entitled ‘EyeTN-Beyond the Genome; Training the Next Generation of Ophthalmic Researchers’ took place from 2013 – 2017 and involved seven groups from ERDC as well as seven industrial partners.

A second Marie-Sklodowska Curie Innovative Training Network entitled ‘StartT - Training researchers to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder’ took place between 2018 and 2023 (https://www.startn.eu/). It involved eight academic groups, six of which are ERDC partners, as well as four companies and two patient organizations.

This year, a third Marie-Sklodowska Curie Doctoral Network entitled ‘ProgRET’ has commenced (https://www.progret.eu/). The objective of ProgRET is to conduct advanced vision research that addresses the knowledge gaps to understanding, diagnosing and treating autosomal dominant inherited retinal disease (adIRD). It involves eight academic groups, five of which are ERDC partners, as well as five associated partners, comprised of two companies, two patient organizations and one ERDC partner.

Partners

The European Retinal Disease Consortium (ERDC) consists of 21 research groups, most from Europe, three from Israel, one from Canada, and one from the USA.

21

Germany, The Netherlands, Belgium, France, United Kingdom, Switzerland, Spain, Italy, Israel, Canada, USA, Ireland, Greece, Hungary

Candidate IRD Genes

Through this link you can find a subset of our list of inherited retinal disease (IRD)-associated candidate genes in which we found a rare sequence variant, the clinical subtype, the presumed inheritance pattern and the e-mail address of the workgroupleader that made the original discovery.

180

Genes with rare variant

Joint Papers

ERDC members have jointly published a large number of peer-reviewed papers

264

Published peer-reviewed papers between 2008 and 2024