Organ-specific outcomes in ciliary signaling defects (B06)

• Subject Area: Pediatric and Adolescent Medicine
• Term: from 2015 to 2019
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 246781735

Ciliopathies are phenotypically and genetically very heterogeneous disorders. Using the disease group JATD/SRPS (a ciliary chondrodysplasia with a high lethality rate) as an example, this project examines signaling pathways during development for their role in the organ-specific origin of the disease. By means of new sequencing techniques, disease-causing genes and changes in differentiation-dependent transcriptomes will be identified in induced pluripotent stem cells of JATD/SRPS patients. In a further step organ-specific pathogenetic factors and higher-level feedback cycles of ciliopathies will be validated selectively in the zebrafish model.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1140: Kidney Disease - from Genes to Mechanisms (KIDGEM)
• Applicant Institution: Albert-Ludwigs-Universität Freiburg
• Project Heads: Privatdozent Dr. Ekkehart Ullrich Lausch; Dr. Miriam Schmidts