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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.

DBGen JOINS THE GLOBAL CELEBRATION OF RARE DISEASES’ DAY

  Rare diseases affect less than 1 out of 20.000 people. However, if we take into account the more than 7000 reported rare diseases, the numbers add up to 6% to 8% of global population. In consanguineous populations, the prevalence is much higher, reaching up to 60% (data from FEDER). These pathologies constitute an authentic puzzle: on the one hand,...

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DBGen fourth anniversary and summary of the year

  Advances in genetic diagnosis This year, DBGen has expanded its genetic diagnostic services by presenting 3 new panels and incorporating state-of-the-art massive sequencing methodologies (complete genome sequencing). Three new panels: Panel of Dysgenesis and Dystrophies of the Anterior Segment (136 genes): indicated for the diagnosis of anomalies of the anterior part of the eye (from the cornea to the...

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First gene therapy application of Luxturna in the UK

This February Moorfields Eye Hospital in London and Radcliffe Hospital in Oxford have started treating patients affected by Leber congenital amaurosis (LCA) with the Luxturna gene therapy. LCA is a childhood-onset severe retinal dystrophy, which causes irreversible blindness for which, until now, no treatment was available. Luxturna (voretigene neparvovec) is also the first gene therapy approved for the treatment of an...

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Relevance of the identification and characterization of deep-intronic mutations

Genes are DNA sequences that contain information for the synthesis of proteins and they are composed of exonic and intronic sequences. The exons possess the information used for the protein synthesis, whereas the introns, although they do not contain information translated into protein, they play an important role to ensure their correct formation. Each gene has several exons interspersed between...

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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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