DBGen INTERVIEWS ALEX GARANTO, PhD Assistant Professor at Radboud University Medical Center Nijmegen, Holanda). Specialist in molecular therapies for inherited retinal diseases and neurometabolic disorders. Dr. Alex Garanto carried out his doctoral thesis at the University of Barcelona (2011) under the supervision of Drs. R. González-Duarte and G. Marfany, studying the function of CERKL, a gene associated with Retinitis...
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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...
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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,...
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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...
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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...
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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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