Discover Our Science

Complete rescue of BBS1 neurometabolic syndrome, brain ventriculomegaly and obesity with a unilateral intracerebroventricular delivery of an AAV9 expressing a codon-optimised BBS1 sequence

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 info

Codon-optimisation for Bardet-Biedl Syndrome 1 (BBS1) and Bardet-Biedl Syndrome 10 (BBS10) genes for AAV constructs

Our 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 info

Gene therapy results in long-term rescue of photoreceptor function in a mouse model for Bardet-Biedl Syndrome 1

The 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.

More info