Jose L. Badano0000-0002-0706-8652
Jose L. Badano currently holds a faculty position at the Institut Pasteur of Montevideo, Uruguay. He received his Ph.D. degree from the Department of Molecular and Human Genetics at Baylor College of Medicine, Houston, TX, USA, and performed his postdoctoral training in the laboratory of Dr. Nicholas Katsanis at Johns Hopkins University, Baltimore, Md, USA. His laboratory at the Institut Pasteur de Montevideo is focused on the study of ciliary biology to understand why dysfunction of this organelle results in the different phenotypes that characterize the group of human conditions known as ciliopathies. One example of a ciliopathy, and the model of study of the lab, is Bardet-Biedl syndrome (BBS), a genetically heterogeneous disorder for which 16 genes have been cloned to date. The BBS proteins tested to date localize to centrosomes, basal bodies, the ciliary compartment, and in some cases the nucleus where they likely play a role in gene regulation. Defects in these proteins can result in both structural and functional ciliary defects such as the misregulation of the Wnt signaling pathway. In the context of the Wnt signaling cascade, the BBS proteins appear to modulate the balance between the canonical/ß-catenin dependent and noncanonical or planar cell polarity (PCP) pathways. Consequently, BBS represents a powerful model to study the biology of cilia and their role in signal transduction to modulate cell fate. In the lab, they are conducting both in vitro and in vivo studies designed to gain insight into the cellular function of the BBS and other cilia-associated proteins, both in the context of the cilium as well as outside of it.
Biography Updated on 17 January 2012