News & Events

Usher syndrome is a genetic disorder that presents recessive inheritance and is characterized by hearing loss and retinitis pigmentosa, traits that may be total or partial. The prevalence of this disease is 1: 30,000 individuals considering the three types of USHER identified, the most common being type II (60% of cases), caused mostly by the USH2A gene. There was no...

Interview with Marcela Ciccioli on progress of LHON patients treated with gene therapy in China

07/03/19 - Patients, Gene Therapy,

We firmly believe that the achievements of women in the field of hereditary eye diseases have to be made visible and acknowledged worldwide. For this reason, and to celebrate the International Women's Day, we have interviewed Marcela Ciccioli, President of Stargardt APNES Retina Argentina. Marcela is a tireless fighter, a source of energy and a beacon of hope. Her firm...

Relevance of the identification and characterization of deep-intronic mutations

19/02/19 - Genetic Diagnosis, Retinal Dystrophy, Research, Mutation, Patients,

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...

DBGen contribute to the Spanish press especial edition about rare diseases

16/01/19 - Genetic Diagnosis, Patients,

The December supplement (2018) of "El País" has been devoted entirely to disseminating knowledge about rare diseases. Among other topics, it has highlighted the importance of prevention, early diagnosis, the development of orphan drugs and genetic diagnosis. One of the articles in the supplement is dedicated to rare diseases that affect the retina and among them describes the clinical symptoms...

We celebrate our first anniversary with a summary of the year

20/12/18 - DBGen, Genetic Diagnosis,

In January 2018, Dr. Roser Gonzàlez-Duarte and Dr. Gemma Marfany founded DBGen Ocular Genomics, a spin-off of the University of Barcelona. Their goal was to approach the genetic diagnosis of ocular hereditary diseases with the highest scientific standards. DBGen Ocular Genomics was born from the experience of more than 25 years of research on the genetic and molecular bases of...

First CRISPR gene editing therapy for inherited visual disorders

03/12/18 - Leber Congenital Amaurosis, Gene Therapy,

On the 30th November EDIT-101, developed by Editas Medicine, received the approval from the Food and Drug Administration (FDA) to be the first in vivo CRISPR medicine administered to people anywhere in the world. EDIT-101. EDIT-101 is an experimental CRISPR genome editing medicine for the treatment of Leber Congenital Amaurosis (LCA, an inherited early-onset visual disorder that leads to infantile and juvenile...

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