Abstracto

The Role of Gap Junctions in Disease and Potential Treatment Approaches

Dale W Laird

Our research program is engaged in examining the over two dozen distinct human diseases linked to genes that encode the proteins (connexins) used in gap junctional intercellular communication. Mutations in 50% of the 21 connexin gene family members result in conditions ranging from developmental abnormalities that include hearing loss to life-shortening organ failure. We use a multidimensional approach involving organotypic cultures, genetically-modified mice, connexinlinked disease patient cells and human inducible pluripotent stem cells to interrogate the scope of mechanisms that lead to disease in some tissues while other organs are spared. In principal, connexins are linked to disease or injury repair through three different mechanistic paradigms.