The December supplement (2018) of "El País" has been devoted entirely to disseminating knowledge about rare diseases. Among other topics, it has highlighted the importance of prevention, early diagnosis, the development of orphan drugs and genetic diagnosis. One of the articles in the supplement is dedicated to rare diseases that affect the retina and among them describes the clinical symptoms...
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In January 2018, Dr. Roser Gonzàlez-Duarte and Dr. Gemma Marfany founded DBGen Ocular Genomics, a spin-off of the University of Barcelona. Their goal was to approach the genetic diagnosis of ocular hereditary diseases with the highest scientific standards. DBGen Ocular Genomics was born from the experience of more than 25 years of research on the genetic and molecular bases of...
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On 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...
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Leber 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...
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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...
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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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