Intracerebroventricular (ICV) delivery of an Adeno-associated virus 9 (AAV9) expressing human BBS1 (hBBS1) is able to ameliorate the neurometabolic phenotype in the Bbs1M390R/M390R mice.
More infoOur results show that a precise analysis of different constructs and codon-optimised sequences, is a requisite first step to test new constructs for AAV vectors before assessing for actual pharmacological efficacy.
More infoThe low levels of expression of BBS1 in photoreceptors may explain the inability to successfully rescue the retinal phenotype. We therefore explored the therapeutic effect of delivering BBS1 to the retinal pigmented epithelium cells, which are highly ciliated and crucial for photoreceptor survival.
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