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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.

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...

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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...

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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...

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RD2018 Congress discloses new advances and upcoming therapies for Retinal Dystrophies

In September 2018 two relevant meetings related to ocular diseases, the RD2018 International Symposium on Retinal Degeneration and the ISER (International Society for Eye Research) Conference, have taken place in Ireland. In particular, the RD2018 meeting, in which the DBGen team presented two contributions, has focused on the latest advances in genetic diagnosis, disease mechanisms and therapeutic approaches of Retinal...

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Revolution in Genetic Diagnosis, our contribution to Barraquer magazine

PhD. Roser Gonzàlez and PhD. Gemma Marfany, founders and directors of the company DBGen Ocular Genomics, were invited to participate as columnists of the issue 32 of the Barraquer Ophthalmology Center magazine. Their contribution was dedicated to the genetic diagnosis of inherited eye diseases, emphasizing aspects such as the importance of new technologies: "Massive sequencing of the whole gene or specific genetic regions...

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Printing 3D corneas for transplantation

04/07/18 - Research, Patients,

A very recent publication (May 2018) of researchers from the University of Newcastle showed that creating human corneas in a 3D printer was possible. The cornea, the external, transparent and resistant part of the eye, is formed by alive cells that can suffer environment and trauma aggressions. Moreover, many genetic mutations cause inherited corneal dystrophies (e.g. Ched corneal endothelial, Fehr...

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