Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/5341
Título: Gene editing in Lysosomal Diseases
Autor: Duarte, Ana Joana
Bragança, José
Coutinho, Francisca
Amaral, Olga
Palavras-chave: Gene Editing
Lysosomal diseases
Doenças Genéticas
Genéica Humana
Data: 8-Nov-2017
Resumo: Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) were found as an immune adaptive mechanism in bacteria and quickly applied to various fields as a gene editing tool. Gene editing methods, as a research tool to attempt in vitro correction, have been carried out in several disorders. Induced pluripotent stem cells (iPSCs) from patients with several genetic diseases, including Lysosomal Storage Diseases (LSDs), have been successfully established. Patient-derived iPSCs present the advantage of having the patient’s genetic background with all corresponding influences on the disease’s mechanism. In LSDs, enzyme replacement therapy (ERT, regular supplementation of the defective enzyme), is the most common treatment to clear the accumulated substrates in patient cells but it is hardly effective in non-neurological disease forms. The CRISPR/Cas9 genome-editing system is most promising for the establishment of disease models and for the potential correction of causal. Gene editing technologies and iPSCs provide a unique system for data analysis and research for target therapy.
Peer review: yes
URI: http://hdl.handle.net/10400.18/5341
Aparece nas colecções:DGH - Posters/abstracts em congressos internacionais

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