World Rare Disease Day. Interview with a patient
Today is the World Day for Rare Diseases, that is, diseases that affect less than 1 in 2,000 people. Most of these diseases are pediatric and a premature diagnosis opens the door to treatments to stop or slow down the onset of symptoms. Their low frequency makes them largely unknown to most of the […]
Interviews for International Sight Day
In order to celebrate International Sight Day, DBGen wanted to bring attention to rare vision pathologies and to to highlight to people who persevere in the search for a genetic diagnosis as an essential requirement to access effective treatments. We have brought together the presidents of some of the associations of patients affected by retinal […]
World Sight Day to raise awareness of blindness and visual impairment
World Sight Day is observed annually on the second Thursday of October. This global event coordinated by The International Agency for the Promotion of Blindness (IAPB) in cooperation with the World Health Organization (WHO) is meant to raise public awareness of blindness and vision impairment as major international public health issues. World Sight Day aims to influence […]
Macular Week: Recent advances in pharmacotherapy for Stargardt disease
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, […]
Interview with Marcela Ciccioli on progress of LHON patients treated with gene therapy in China
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 […]
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 […]
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 […]
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 […]
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 […]
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 […]