Characterization of genes in renal-skin syndromes (A04)

• Subject Area: Dermatology ; Developmental Biology
• Term: from 2015 to 2018
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 246781735

We have recently identified a novel hereditary disease linking junctional Epidermolysis Bullosa (ILNEB) to congenital nephrotic syndrome. The causal mutations reside in the integrin ¿3 gene (ITGA3), which mediates cell-matrix interactions in skin and glomerular podocytes. This proposal aims to identify and characterize additional mutations in ITGA3 and discover other genes encoding for adhesion and matrix proteins that when mutated cause renal-skin syndromes in our large and well-characterized patient cohort. To examine the role of these genes in kidney development and function and the consequences of the identified mutations, we will make use of the zebrafish as a model organism.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1140: Kidney Disease - from Genes to Mechanisms (KIDGEM)
• Applicant Institution: Albert-Ludwigs-Universität Freiburg
• Project Head: Professorin Dr. Cristina Has