News
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.
Filters
Subscribe to our blog
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 visionTherapyUsher'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...
DBGen JOINS THE GLOBAL CELEBRATION OF RARE DISEASES’ DAY
Rare diseases affect less than 1 out of 20.000 people. However, if we take into account the more than 7000 reported rare diseases, the numbers add up to 6% to 8% of global population. In consanguineous populations, the prevalence is much higher, reaching up to 60% (data from FEDER). These pathologies constitute an authentic puzzle: on the one hand, there are only...
DBGen fourth anniversary and summary of the year
Advances in genetic diagnosis This year, DBGen has expanded its genetic diagnostic services by presenting 3 new panels and incorporating state-of-the-art massive sequencing methodologies (complete genome sequencing). Three new panels: Panel of Dysgenesis and Dystrophies of the Anterior Segment (136 genes): indicated for the diagnosis of anomalies of the anterior part of the eye (from the cornea to the lens). Among...
TwinPE: An improved genome-editing tool that allows inserting entire genes for gene therapy
Researchers at the Broad Institute of Harvard University have just reported in the scientific journal Nature Biotechnology an improved version of prime editing, the highly accurate genome editing method developed in 2019 by the same team. This new version, called twin prime editing (twinPE), allows insertion of DNA fragments of the size of a gene into specific sites of the genome. In the long...