News

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...

DBGen JOINS THE GLOBAL CELEBRATION OF RARE DISEASES’ DAY

28/02/22 - Enfermedades Raras, Research,

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,...

DBGen fourth anniversary and summary of the year

02/02/22 - DBGen, Genetic Diagnosis, Research,

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...

TwinPE: An improved genome-editing tool that allows inserting entire genes for gene therapy

21/01/22 - Gene editing, Research, Therapy, 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...

Innovation in gene therapy designs for retinal diseases

17/12/21 - Therapy, Gene Therapy,

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...

Innovative gene therapy for autosomal dominant retinitis pigmentosa

29/11/21 - Retinal Dystrophy, Retinitis pigmentosa, Therapy, Gene Therapy,

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...

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