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See what’s new in the field of hereditary eye diseases

Blog managed by the DBGen team, with updated therapies, news and events involving hereditary eye diseases. We invite you to take part in this forum.

Promising results for a first-in-class Usher syndrome IIA therapy

The Dutch biotechnology company ProQR has just presented (March 2021) the first results of a clinical trial, named Stellar, with QR-421a, an antisense oligonucleotide designed to stop vision loss or restore vision in Usher syndrome IIA and non-syndromic retinitis pigmentosa patients due to USH2A exon 13 mutations. The therapeutical approach aims to exclude the exon 13 coding region in the...

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A third of the world’s population carries mutations associated with retinal dystrophies

A very recent study published in the scientific journal PNAS highlights an estimate, on a global scale, of the frequency of individuals carrying pathogenic mutations responsible for inherited retinal dystrophies (IRD) and illustrates the prevalence of this group of diseases. These data are highly relevant for genetic diagnosis, genetic counselling and the design of new therapies. The authors studied the...

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RPGeNet v2.0 allows visualizing interactions of more than 270 causative genes of inherited retinal dystrophies

RPGeNet is a network dedicated to provide a graphical platform that links retinal dystrophies causative genes with their molecular interactors. The aim of this network is granting researchers a tool that allows them to understand the pathological process in its cellular and histological context, highlight key molecular players of retinal degeneration and unveil new candidate genes of these diseases (Boloc...

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Professor Gemma Marfany has been awarded the distinction of the Council of Doctors and the Board of Trustees of the University of Barcelona for her contribution to scientific communication

03/04/19 - DBGen,

Professor Gemma Marfany, co-founder and associate director of DBGen Ocular Genomics, has been honored with the Distinction of the Council of Doctors and the Board of Trustees of the University of Barcelona (UB) in its sixth edition. The award ceremony was held on April 2, 2019, in the Aula Magna of the Historic Building of the UB. With this distinction,...

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World DNA day

Two intertwined lines, a glimpse of an helix... no doubt, this is the symbol of DNA. The structure of DNA has completely revolutionized our view of the world, the double helix allowed us to understand how genetic information is transmitted to progeny and how we could decypher the instructions encoded in genes. On 25th of April every year we celebrate...

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First cell therapy clinical assay for dry Age-Related Macular Degeneration

Dry Age-Related Macular Degeneration (ARMD) is a frequent retinal neurodegenerative disorder that eventually leads to severe blindness. ARMD is a complex disease, triggered by several environmental as well as susceptibility genetic factors. There is no current effective treatment that can halt the progressive loss of retinal pigment epithelium, the phenotypic hallmark of ARMD. Very promising results have been recently reported...

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