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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
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
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 et...
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
LProfessor 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, the Council of...
First patient treated in ProQR STELLAR phase 1/2 gene therapy clinical trial for Usher Syndrome Type II
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 treatment available...
Interview with Marcela Ciccioli on progress of LHON patients treated with gene therapy in China
We firmly believe that the achievements of women in the field of hereditary eye diseases have to be made visible and acknowledged worldwide. For this reason, and to celebrate the International Women’s Day, we have interviewed Marcela Ciccioli, President of Stargardt APNES Retina Argentina. Marcela is a tireless fighter, a source of energy and a beacon of hope. Her firm...
Relevance of the identification and characterization of deep-intronic mutations
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...