4 documents found, page 1 of 1
Gene Editing in Fabry Disease: A Strategy Delineation
Duarte, Ana J.; Moreira, Luciana; Ribeiro, Diogo; Amaral, OlgaThe use of iPSCs, in the last years became wide spread, even in our group at INSA, the use of iPSCs to develop models of disease is now envisaged for various Lysosomal Storage Diseases. Such cell models are being used to experiment several types of therapeutic methodologies, as well as approaches that interfere with normal pathways to provide understanding about pathologic mechanisms, and gene editing is partic...
Tay Sachs disease variant B1: iPSC and NGS as the basis for a cellular model
Ribeiro, Diogo; Duarte, Ana J.; Moreira, Luciana; Santos, Renato; Encarnaçao, Marisa; Silva, Lisbeth; Coutinho, M. Francisca; Alves, SandraTay Sachs disease variant B1 (TSD B1; OMIM 272800) is a neurodegenerative lysosomal storage disease (LSD) which, although rare, is the most frequent form of TSD in Portugal. The mutation p.R178H (c.533G>A; rs28941770), associated with TSD B1, leads to a mutant HexA protein with altered kinetics and reduced residual activity. The availability of disease-relevant cell types derived from induced pluripotent stem c...
From fibroblasts to cardiomyocytes and beyond
Duarte, Ana J.; Ribeiro, Diogo; Braganca, Jose; Amaral, OlgaFrom Fabry disease causing effect to personalised cell model of cardiomyocytes and future mutation correction applying a prime-editing approach.
Cell lines for the study of Lysosomal Storage Diseases: conservation and identity
Correia, Maria I.; Duarte, Ana J.; Ribeiro, Diogo; Amaral, OlgaThe use of cell lines has revolutionized research in the area of human genetics. The possibility of allowing, at a low cost and relative ease, practical access to biological material bearing in mind the benefit to the patient/family by obtaining samples with adequate informed consent, is a great asset. The accessibility of cell lines from biobanks allows access to samples with all the ethical and feasibility co...