Project information
On the Trail of the Tubulin Code: Exploring Ciliopathy Mechanisms and Therapeutic Opportunities

Ciliopathies are a group of disorders characterized by dysfunctional cilia, small sensory
membrane protrusions found on nearly all human cells. Bardet-Biedl Syndrome (BBS) is a rare
multisystemic ciliopathy caused by malfunction of a ciliary cargo adaptor BBSome. Despite
significant therapeutic progress, the syndromic nature and unclear etiopathology of BBS pose
challenges to developing effective treatments.
Here, we will rigorously investigate novel interactions between functional modules regulating
cilia (namely BBSome, kinesin KIF14, and the Tubulin Code) in healthy and BBS conditions. In
turn, we will examine the corresponding strategies (e.g., pharmaco-inhibition of tubulinmodifiers,
cilia-targeted tubulin modifying enzymes, and genetic modulation of KIF14 function)
to mitigate BBS-related defects in both cellular and animal models.
In sum, by addressing conceptually novel mechanisms of primary cilia regulation in the context
of BBS, we strive to identify potential therapeutic avenues for the treatment of this disorder