type your search, and then press enter

Noticias y Eventos

Descubra las novedades en el campo de las patologías oculares hereditarias

Blog operado por el equipo de DBGen que actualiza terapias, noticias y eventos relacionados con las enfermedades hereditarias oculares. Le invitamos a participar en este foro.

Macular Week: Recent advances in pharmacotherapy for Stargardt disease

25/06/19 - Research, Patients, Stargardt,

Macular Week is all about sensitizing and informing patients, associations, professionals and society of latest achievements on macular degenerative pathologies. In this publication, we will focus on the news on orphan drugs that are currently in the clinical or preclinical phase for the treatment of Stargardt disease. Stargardt disease, the most common inherited macular dystrophy, is characterized by the progressive...

read more

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...

read more

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

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

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...

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