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AAV-based gene editing of type 1 collagen mutation to treat osteogenesis imperfecta

26 Dec 2023

Abstract excerpt

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility, low bone mass, fractures, and extraskeletal manifestations. Since OI is commonly caused by single-nucleotide mutation(s) in the COL1A1 or COL1A2 genes encoding type I collagens, we developed a genome-editing strategy to correct a Col1a2 mutation in an OIM mouse model resembling a severe dominant form of human type III OI. Using a...

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PMID: 38261950
DOI: 10.1016/j.omtn.2023.102111

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