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Noticias y Eventos

Descubra las novedades en el campo de las patologías oculares hereditarias

Blog operado por el equipo de DBGen que actualiza terapias, noticias y eventos relacionados con las enfermedades hereditarias oculares. Le invitamos a participar en este foro.

Direct reprogramming of skin cells into photoreceptors in mice

27/05/20 - Research, Therapy, Cell Therapy,

The end result of many retinal dystrophies is photoreceptor cell death and the irreversible loss of vision. To prevent the progressive loss of retinal neurons, and to slow down or reverse the progression of the disease, gene therapies are currently under study to correct or replace the altered genes responsible for different retinopathies. Another therapeutic strategy that is under intensive...

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A third of the world’s population carries mutations associated with retinal dystrophies

A very recent study published in the scientific journal PNAS highlights an estimate, on a global scale, of the frequency of individuals carrying pathogenic mutations responsible for inherited retinal dystrophies (IRD) and illustrates the prevalence of this group of diseases. These data are highly relevant for genetic diagnosis, genetic counselling and the design of new therapies. The authors studied the...

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DBGen presents a research optimizing the genetic diagnosis of color vision deficiency

DBGen is committed to the quality of genetic diagnosis and its major goal since the beginning of the company is to remain at the forefront of innovation, prioritize resolution of difficult cases, and optimize methodologies that increase the diagnostic yield of inherited ocular diseases. These objectives are clearly attainable due to the high expertise in the field of genetic diagnosis...

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Macular Week: Recent advances in pharmacotherapy for Stargardt disease

25/06/19 - Research, Patients, Stargardt,

Macular Week is all about sensitizing and informing patients, associations, professionals and society of latest achievements on macular degenerative pathologies. In this publication, we will focus on the news on orphan drugs that are currently in the clinical or preclinical phase for the treatment of Stargardt disease. Stargardt disease, the most common inherited macular dystrophy, is characterized by the progressive...

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DBGen and the UB-CIBERER U-718 group present their current research in genetic diagnosis and animal models of inherited retinal dystrophies in ARVO 2019

Dr. Gemma Marfany (co-founder and scientific board member of DBGen) presented an oral communication in ARVO 2019 (held in Vancouver, 2-6 May) to show the most prominent results of the research that his group at the UB-CIBERER (U-718) and DBGEN are currently undertaking to study inherited retinal dystrophies. This work is focused on improved genetic diagnosis and the generation of...

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RPGeNet v2.0 allows visualizing interactions of more than 270 causative genes of inherited retinal dystrophies

RPGeNet is a network dedicated to provide a graphical platform that links retinal dystrophies causative genes with their molecular interactors. The aim of this network is granting researchers a tool that allows them to understand the pathological process in its cellular and histological context, highlight key molecular players of retinal degeneration and unveil new candidate genes of these diseases (Boloc...

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