type your search, and then press enter

News & Events

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.

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...

read more

DBGen contribute to the Spanish press especial edition about rare diseases

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...

read more

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...

read more

First CRISPR gene editing therapy for inherited visual disorders

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...

read more

Advances in gene therapies for Leber congenital amaurosis

31/10/18 - Research, Gene Therapy,

Leber congenital amaurosis (LCA) is an early-onset inherited eye disease characterized by profound visual impairment. It represents the most common genetic cause of blindness in children, affecting 1 in 80,000 newborns. Vision loss in children with LCA occurs when the light-sensing photoreceptor cells (rods and cones) in the retina stop working properly. LCA is a monogenic disease (caused by a...

read more

CERKL a Retinitis Pigmentosa gene and a suggestive therapy target

Inherited retinal dystrophies (IRDs) are a broad group of neurodegenerative disorders associated with reduced or deteriorating visual system. In the retina, cells are under constant oxidative stress due to several environmental factors, particularly light exposure and physiological stress, making photoreceptors and retinal ganglion cells more susceptible to cell death. Inherited mutations in relevant genes that contribute to citoprotective mechanisms such...

read more
1 2 3 4
Copyright © 2019. All Rights Reserved -