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Novel candidate genes for inherited retinal disease (IRD) go public

The list of novel IRD candidate genes has now been made public at the new ERDC website

Mutations in genes involved in inherited retinal diseases (IRDs) can be very rare. In recent years we often find only single cases or families with one or two mutations in a specific gene, which makes it difficult to definitely determine causality for these defects. Using exome sequencing, members of the European Retinal Disease Consortium (ERDC; ) have identified rare variants in ~30 “novel” candidate genes for IRDs.  To facilitate the identification of additional patients with a mutation in these genes, ERDC members listed the genes in which a likely causative variant in one patient or family was identified. For these variants, all ERDC members have scanned their exome data and did not find other patients with variants in the same gene. For variants identified in families with presumed autosomal recessive inheritance, homozygosity mapping data of approximately 300 families have been scanned without success to find other cases. The list of novel IRD candidate genes has now been made public at the new ERDC website at www.erdc.info/#!candidateirdgenes/cihc.

Researchers worldwide are invited to compare their exome data with this gene list. If they find a promising variant in one of these genes, they can contact the respective groupleader to exchange genetic and clinical data, with the possibility of publishing findings jointly and collaboratively. If non-ERDC members found other candidate IRD-associated genes, they can also insert the relevant information on the IRD candidate gene list.

On behalf of the ERDC, Prof. dr. Frans P.M. Cremers

The European Retinal Disease Consortium

The European Retinal Disease Consortium (ERDC) consists of 15 research groups, 13 from Europe, one from Canada, and one from the USA. 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 3000 individuals. The most frequently mutated IRD-associated gene, ABCA4, is mutated in ~1 in 10000 individuals, but most IRD-associated genes are the cause of retinal disease in less than 1 in 100000 persons. More than 200 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 was set up by seven groups from ERDC and seven industrial partners

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