News

In the first months of 2020, positive results in gene therapy of X-linked retinitis pigmentosa (XLRP) have been reported. XLRP is an inherited genetic disorder that causes progressive vision loss, mainly in men. It begins in childhood with night blindness, progresses with the gradual reduction of the visual field and visual acuity, and leads to blindness in the fourth decade...

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

06/04/20 - Genetic Diagnosis, Retinal Dystrophy, Research, Mutation,

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...

A revolutionary CRISPR gene editing technique applied for the first time to a patient with a visual disorder

16/03/20 - Leber Congenital Amaurosis, Gene editing, Therapy, Gene Therapy,

The patient, treated at the Casey Eye Institute in Portland, Oregon, belongs to a group of 18 people affected with Leber congenital amaurosis. These patients will participate in the BRILLIANCE study, the first clinical trial to determine the safety and efficacy of a therapy based on the CRISPR-Cas9 gene editing technique (AGN-151587, EDIT-101). It is the first example of an...

First gene therapy application of Luxturna in the UK

26/02/20 - Leber Congenital Amaurosis, Retinal Dystrophy, Therapy, Gene Therapy,

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...

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...

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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