Badano Caballero, José

Research interests

The research focus of our laboratory is centered on the study of cilia (mainly primary or non-motile cilia). Cilia are cellular extensions present in the vast majority of human cells, where they participate in various processes such as signal reception and transduction, acting as true antennas that integrate signals and regulate cellular physiology in coordination with their environment. Therefore, it is not surprising that ciliary dysfunction or defects in cilia formation result in a group of human diseases known as ciliopathies.
In our laboratory, we pursue different research lines aimed at understanding various aspects of cilia biology. A major effort is dedicated to identifying and characterizing the mechanisms and proteins involved in cilia formation and length regulation, two fundamental aspects for their proper function. Another crucial aspect is understanding how different proteins are targeted to the ciliary interior. Although the interior of these organelles is continuous with the cytosol, their composition is distinct and must remain so for cilia to function correctly. Finally, another major interest of our laboratory is gaining insight into the role of cilia during development and tissue maintenance, which are critical aspects in the pathogenesis of the various clinical manifestations that characterize ciliopathies. One example, and the primary ciliopathy model we study in our laboratory, is Bardet-Biedl syndrome (BBS), a disease primarily characterized by obesity, polydactyly, intellectual disability, retinal degeneration, and renal and gonadal malformations. It often includes additional features such as asthma, diabetes, situs inversus, anosmia, and congenital heart disease.
We focus on studying various BBS proteins as well as other ciliary proteins. To achieve this, we perform both in vitro and in vivo assays by generating animal models. In summary, through the functional characterization of BBS and other ciliary proteins, we aim to expand our understanding of the basic biology of cilia as organelles and to elucidate the cellular and molecular basis of different clinical aspects associated with BBS and other ciliopathies. In this context, one of our laboratory's key focuses is understanding the development of obesity in ciliopathies, particularly the role of BBS proteins and cilia in adipose tissue. Another major interest of the lab is investigating the genetics and cellular/molecular basis of polycystic kidney disease.

Working area

As mentioned earlier, the laboratory works in the field of biomedicine, focusing on understanding fundamental aspects of primary cilia biology, as well as the role of proteins that, when mutated, affect their function and cause ciliopathies. To achieve this, we develop cellular and animal models.