Science and vision

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.

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DBGen participates in EURETINA 2022

DBGenEventsScience and vision
Banner Euretina 2022
DBGen has been in the EURETINA Congress 2022, which was held this year in Hamburg. This congress gathers the last advances in research in the area of visual pathologies. Dr. Rebeca Valero presented two complex cases which were diagnosed in DBGen by a combination of next generation sequencing techniques. The abstract of this work, "NGS technologies (targeted gene panels, WES and...
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COLOR BLINDNESS: ¿How many colors do you see?

AchromatopsiaScience and vision
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...
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Organoids, generating human eyes for therapy

Science and vision
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...
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A great leap in the treatment of hereditary pathologies of vision: gene therapy

Gene therapyGenomic editingScience and visionTherapy
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...
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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...
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TwinPE: An improved genome-editing tool that allows inserting entire genes for gene therapy

Gene therapyGenomic editingScience and visionTherapy
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...
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