Gene Therapy for Syndromic Ciliopathies
Developing different gene therapy
My main interest is developing different gene transfer techniques to treat Bardet Biedl syndrome (BBS). I use BBS murine models to restore gene function with the help of different serotypes of adeno-associated virus (AAV) expressing wild-type BBS genes under the control of different promoters. The results show we results a capacity to rescue the affected tissues and we are now proceeding to developed clinically relevant products to start clinical trials.
Molecular mechanism behind ciliopathies
My research also focuses on the mechanisms by which primary cilia are regulated by genes mutated in ciliopathies and BBS. We are studying cilia formation and regulation in cellular and animal models lacking BBS gene function to understand how their interactions influence cilia function. I am interested in understanding how ciliary related gene expression is regulated in a different way in affected tissues and how this affect the downstream molecular pathways.
In all our BBS mouse models, retinal degeneration and truncal obesity are consistent progressive phenotypes. Understanding how retinal degeneration occurs in BBS mouse models is an important step to find a possible clinical response to these degenerative phenotypes. Studying the cellular mechanisms linked in the late onset cell death of the photoreceptors or the hypothalamic regulation of obesity will improve the capacity of creating better treatments.