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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 has completely...
Printing 3D corneas for transplantation
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...
Small chaperones to treat retinitis pigmentosa
Rhodopsin is the main photopigment in rods. Many mutations in the rhodopsin gene translate into a misfolded nonfunctional protein that is toxic, thus causing photoreceptor death and premature retinitis pigmentosa. Many research groups are looking for therapeutic approaches to treat this type of untreatable retinal dystrophy, for instance by CRISPR/Cas9 gene editing. Nonetheless, a group has just reported (Chen et...
Latest reports on retinal dystrophy gene therapy clinical trials
Recently, a worldwide congress on vision research, ARVO 2018, was held on the 29th April-2nd May in Honolulu. Several sessions were dedicated to present the latest reports on retinal dystrophy gene therapy clinical trials. Gene therapy is a type of precision medicine that aims to treat the genetic defect behind a particular disorder, thus gene therapy is developed for patients...
World DNA day
Two intertwined lines, a glimpse of an helix… no doubt, this is the symbol of DNA. The structure of DNA has completely revolutionized our view of the world, the double helix allowed us to understand how genetic information is transmitted to progeny and how we could decypher the instructions encoded in genes. On 25th of April every year we celebrate the...
First cell therapy clinical assay for dry Age-Related Macular Degeneration
Dry Age-Related Macular Degeneration (ARMD) is a frequent retinal neurodegenerative disorder that eventually leads to severe blindness. ARMD is a complex disease, triggered by several environmental as well as susceptibility genetic factors. There is no current effective treatment that can halt the progressive loss of retinal pigment epithelium, the phenotypic hallmark of ARMD. Very promising results have been recently reported...