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See what’s new in the field of hereditary eye diseases

Blog managed by the DBGen team, with updated therapies, news and events involving hereditary eye diseases. We invite you to take part in this forum.

International Women’s Day: Tribute to Marie Gertude Rand

08/03/18 - Research,

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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Interview with Margaret Creus – Rare Disease Day

28/02/18 - Patients, Stargardt,

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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Interview with Marcela Ciccioli – Rare Disease Day

28/02/18 - Patients, Stargardt,

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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Latest article from our research about genetic diagnosis of patients with complex retinal dystrophy and ocular phenotypes

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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LUXTURNA, made available to European patients by Novartis

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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DBGen has new website!

13/01/18 - DBGen, Research,

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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