We believe it is essential to keep a close relationship with all of our patients and know their stories. This is why to celebrate the Rare Disease Day, we have interviewed Marcela Ciccioli, president of Stargardt APNES (Asociación de Pacientes y Padres de Niños con Enfermedad de Stargardt de Argentina) and mother of Victoria, a patient with Stargardt’s disease. Marcela...
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Some patients show complex blended phenotypes that combine retinal dystrophy with other ocular disorders. In these cases, the genetic diagnosis via massive sequencing performed by our team in collaboration with clinicians was instrumental to identify the causative retinal dystrophy mutations plus additional genetic variants that also impacted on the phenotype. Thus, multi-Mendelian phenotypes previously ascribed to rare syndromes can be...
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Spark Therapeutics enters into a licensing agreement with the big pharmaceutical company Novartis to commercialize LUXTURNA, the first gene therapy treatment approved for inherited retinal dystrophies, in Europe. LUXTURNA is addressed to patients suffering from Leber Congenital Amaurosis (LCA) caused by mutations in the RPE65 gene. This one-time gene therapy consists of a subretinal microinjection of therapeutic adenoassociated virus that...
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Starting from January 15 2018 DBGen has a new website. DBGen, which is a company devoted to genetically diagnosing hereditary eye diseases, is a spin-off from the University of Barcelona funded by the researchers Dr Roser González Duarte and Dr Gemma Marfany. They have been conducting basic research on genetic diseases of the retina for over 25 years. DBGen offers genetic...
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The FDA (Food and Drug Administration de EEUU) has just approved the first gene therapy treatment for inherited retinal dystrophies that targets a rare disease caused by mutations in a specific gene (precision medicine). After successful clinical trials, FDA has granted LUXTURNA to Spark Therapeutics. With a cost around 850.000 $ (two eyes treatment), LUXTURNA is addressed to patients that...
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