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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.

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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DBGen awarded an EASI-Genomics grant for innovative long-read sequencing of inherited retinal dystrophies

28/06/21 - DBGen, Genetic Diagnosis,

The Transnational Access Committee of the European Advanced infraStructure for Innovative Genomics (EASI-Genomics) has selected the project PID15251 submitted by DBGen Ocular Genomics in the third call for projects of this initiative. DBGen's proposal has successfully passed the scientific and technical evaluation steps of this highly competitive call. EASI-Genomics is an initiative, funded with 10 million euros by the European...

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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’s genetic diagnosis of hereditary eye diseases tops the 1,000 patients figure

21/01/20 - DBGen, Genetic Diagnosis,

We are glad to announce that early this year DBGen Ocular Genomics has achieved more than 1,000 genetic diagnoses of hereditary visual disorders. The genetic diagnosis of hereditary eye diseases is not without a high degree of complexity. Over 270 genes associated with inherited retinal dystrophies (IRDs) and more than 500 genes associated with visual disorders with a Mendelian inheritance...

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DBGen second anniversary and summary of the year

30/12/19 - DBGen, Genetic Diagnosis,

DBGen Ocular Genomics is a spin-off of the University of Barcelona specialized in the genetic diagnosis of hereditary eye disorders. It was founded in January 2018 by Roser Gonzàlez-Duarte and Gemma Marfany, both senior scientists focussed in human molecular genetics, particularly in the genetic basis of ocular disorders. DBGen Ocular Genomics aims to provide an accurate genetic diagnosis to guide...

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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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