Ciliopathies

Our group has been working since its creation on the molecular and functional characterization of ciliopathies. We started studying retinal dystrophies and these led us to focus mainly on Bardet-Biedl Syndrome (BBS) and Alström syndrome (ALMS), even though we are still interested in others such as Senior-Loken, Joubert or Adams-Oliver.

Bardet-Biedl Syndrome

We have developed an algorithm for the diagnosis of BBS in Spanish population, we have used Whole Exome Sequencing to improve the diagnosis of ciliopathies and detect novel candidate genes, and we have also used zebra fish (Danio rerio) to model BBS. We are currently focusing on investigating the function of ciliary genes, what is their role in cell signaling and how can we relate it to disease.

Alström Syndrome

We have seen that ALMS-Knock Down cells exhibit abnormal cilia and impaired cell signaling, so we are now using ALMS-Knock Out cellular and zebra fish models to unravel the deregulations of the syndrome through RNA-sequencing and applied proteomics. We are also interested on testing the role of Epigenetic alterations in ALMS.

Pulmonary Arterial Hypertension

We have been studying the genetic basis of Pulmonary Arterial Hypertension (PAH) since 2009. We have identified and functionally characterized plenty of mutations in most of its main genes implied on PAH. We are still using in vitro functional analysis for several projects, but we have taken a step further and we are now aiming to improve our understanding of the complex post-transcriptional modifications and regulation involved in PAH through non coding ARN.