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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 JOINS THE GLOBAL CELEBRATION OF RARE DISEASES’ DAY

Rare DiseasesScience and vision
Rare diseases affect less than 1 out of 2.000 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...
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DBGen fourth anniversary and summary of the year

DBGenEventsGenetic diagnosis
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...
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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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Innovation in gene therapy designs for retinal diseases

Gene therapyScience and visionTherapy
Gene therapy aims to recover the normal function of the cells of a patient to obtain a therapeutic benefit by introducing genetic material. The benefit being, for example, in improving the immune system response to fight cancer or correcting a genetic disorder by rescuing gene function. Scientists harness the natural ability of viruses to transfer their genetic material to infected...
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Innovative gene therapy for autosomal dominant retinitis pigmentosa

Gene therapyRetinal dystrophyRetinitis pigmentaryScience and visionTherapy
Mutations in the RHO gene are the main cause of dominant forms of retinitis pigmentosa (RP). RHO dictates the production of rhodopsin, a transmembrane protein present in large quantities in the outer segment of rod photoreceptor cells which, together with 11-cis-retinal, initiates the phototransduction cascade. Mutations in RHO often cause photoreceptor toxicity because they negatively affect the function of the normal protein. Gene therapy for inherited...
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Novel high-precision gene therapy to correct an eye disease in mice

Gene therapyGenomic editingScience and visionTherapy
Researchers from the Seoul National University (Korea) have applied for the first an improved genome-editing methodology, named prime editing to correct the genetic defects of two animal models of human disease: a liver disease (hereditary tyrosinemia) and an eye disease (Leber congenital amaurosis). This high-precision genome-editing tool, developed only two years ago by the team of David R. Liu from...
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