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DBGen and the UB-CIBERER U-718 group present their current research in genetic diagnosis and animal models of inherited retinal dystrophies in ARVO 2019

13/05/19 - DBGen, Genetic Diagnosis, Retinal Dystrophy, Research, Gene Therapy,

Dr. Gemma Marfany (co-founder and scientific board member of DBGen) presented an oral communication in ARVO 2019 (held in Vancouver, 2-6 May) to show the most prominent results of the research that his group at the UB-CIBERER (U-718) and DBGEN are currently undertaking to study inherited retinal dystrophies. This work is focused on improved genetic diagnosis and the generation of...

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

30/04/19 - Retinal Dystrophy, Research,

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...

First patient treated in ProQR STELLAR phase 1/2 gene therapy clinical trial for Usher Syndrome Type II

13/03/19 - Retinal Dystrophy, Research, Gene Therapy,

Usher syndrome is a genetic disorder that presents recessive inheritance and is characterized by hearing loss and retinitis pigmentosa, traits that may be total or partial. The prevalence of this disease is 1: 30,000 individuals considering the three types of USHER identified, the most common being type II (60% of cases), caused mostly by the USH2A gene. There was no...

Relevance of the identification and characterization of deep-intronic mutations

19/02/19 - Genetic Diagnosis, Retinal Dystrophy, Research, Mutation, Patients,

Genes are DNA sequences that contain information for the synthesis of proteins and they are composed of exonic and intronic sequences. The exons possess the information used for the protein synthesis, whereas the introns, although they do not contain information translated into protein, they play an important role to ensure their correct formation. Each gene has several exons interspersed between...

CERKL a Retinitis Pigmentosa gene and a suggestive therapy target

10/10/18 - Retinal Dystrophy, Research, Mutation, Patients, Gene Therapy,

Inherited retinal dystrophies (IRDs) are a broad group of neurodegenerative disorders associated with reduced or deteriorating visual system. In the retina, cells are under constant oxidative stress due to several environmental factors, particularly light exposure and physiological stress, making photoreceptors and retinal ganglion cells more susceptible to cell death. Inherited mutations in relevant genes that contribute to citoprotective mechanisms such...

RD2018 Congress discloses new advances and upcoming therapies for Retinal Dystrophies

13/09/18 - DBGen, Retinal Dystrophy, Research,

In September 2018 two relevant meetings related to ocular diseases, the RD2018 International Symposium on Retinal Degeneration and the ISER (International Society for Eye Research) Conference, have taken place in Ireland. In particular, the RD2018 meeting, in which the DBGen team presented two contributions, has focused on the latest advances in genetic diagnosis, disease mechanisms and therapeutic approaches of Retinal...

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