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...
read moreUsher 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...
read moreWe 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...
read moreOn the 30th November EDIT-101, developed by Editas Medicine, received the approval from the Food and Drug Administration (FDA) to be the first in vivo CRISPR medicine administered to people anywhere in the world. EDIT-101. EDIT-101 is an experimental CRISPR genome editing medicine for the treatment of Leber Congenital Amaurosis (LCA, an inherited early-onset visual disorder that leads to infantile and juvenile...
read moreLeber congenital amaurosis (LCA) is an early-onset inherited eye disease characterized by profound visual impairment. It represents the most common genetic cause of blindness in children, affecting 1 in 80,000 newborns. Vision loss in children with LCA occurs when the light-sensing photoreceptor cells (rods and cones) in the retina stop working properly. LCA is a monogenic disease (caused by a...
read moreInherited 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...
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