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COLOR BLINDNESS: ¿How many colors do you see?
The 6th of September is International Color Blindness Day. What is color blindness? DBGen offers a brief explanation of color perception in humans and the associated genetic defects. Colors are our brain’s interpretation of light signals and it classifies them according to their wavelength. For example, we identify light signals between 380 and 450 nm as violet, while light...
DBGen presents and interviews Lluís Montoliu on International Albinism Day
Today we celebrate International Albinism Day. On this occasion, DBGen interviews Lluís Montoliu, an internationally renowned scientist for his long research career and his relevant contributions to the knowledge of the genetic and molecular basis of albinism. In addition, he is a renowned specialist in gene editing, the generation of animal models of rare diseases, and a highly recognized science ...
Organoids, generating human eyes for therapy
Nowadays, most Hereditary Retinal Diseases lack effective treatment. One of the challenges in the development of new therapies is the difficulty to study the functional and physiological effects of the more than 270 genes that are associated with these pathologies. The second challenge is the generation of a reliable model in which to perform a massive screening of potentially therapeutic...
A great leap in the treatment of hereditary pathologies of vision: gene therapy
Of all the advances that scientific and technological development has brought in the field of hereditary pathologies that affect vision, the most relevant and transcendent for the patient is the possibility of applying treatments for diseases that, until now, were considered incurable. . 30 years ago a new type of therapy was successfully started: gene therapy. In general terms, gene...
Update on phase III therapies for hereditary vision disorders
Gene therapyLeber Congenital AmaurosisRare DiseasesRetinitis pigmentaryScience and visionUsher's syndrome
When discussing the treatment for prevalent disorders such as hypertension or asthma, hardly ever do we stop and consider the time and effort that are needed to move from the characterization of the pathology at the clinical level to the implementation of an effective therapy. Nevertheless, this long, highly regulated process is an unavoidable step to secure a safe and...
GLOBAL STARGARDT’S DISEASE DAY
Stargardt’s syndrome, also known as juvenile macular degeneration, is a rare genetic disorder that usually develops in young adults and causes a progressive degeneration of the macula, the central region of the retina responsible for vsharp, central and color vision. Consequently, the main symptom of Stargardt’s disease is the loss of central vision and color blindness. The main gene...