Today, March 8, is the International Women’s Day, a date to commemorate women contribution to science and pay due tribute to Marie Gertrude Rand (1886-1970), an experimental psychologist with outstanding contributions to ophthalmology, physiological optics and lighting instruments design. She received her B.A. (1908) in experimental psychology from Cornell University and her Ph.D. on the “The factors that influence the...
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We are celebrating the Rare Disease Day giving voice to our patients and their families. Now is the turn of Margaret Creus, leader of PedRetina, pediatrician and mother of a patient of Stargardt's disease. Margaret is also a tireless fighter, a commited seeker of innovative solutions and experienced organizer of sports and cultural activities, gathering thousands of people in order...
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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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