School of Medicine and Health Sciences

Project 3: Ciliopathies and intracellular signaling – unravelling the underlying mechanisms and implications for therapeutic approaches

Prof. Dr. John Neidhardt
Faculty of Medicine and Health Sciences
Dept. of Human Medicine
Human Genetics
Carl von Ossietzky University Oldenburg

Prof. Dr. Kathrin Thedieck
Lab for Metabolic Signaling
European Medical School Oldenburg-Groningen

Lab of Pediatrics
University Medical Center Groningen (UMCG)


Summary: Ciliopathies are human genetic diseases caused by mutations in genes coding for functional or structural components of the cilium. Cilia exist on virtually every cell of the human body. Consequently, genetic disturbance of ciliary functions has severe consequences, frequently leading to syndromic phenotypes including retinal dystrophy, renal dysfunction, cognitive delay, and metabolic diseases. Currently, no targeted or pathogenic mechanism-based therapy exists. Dysregulated intracellular signaling is recognized to drive many diseases, and has been linked with ciliary function. In this project, we will use patient-derived cell lines and will (1) comparatively analyze dysregulated signaling in different ciliopathies, (2) explore known and discover novel links between cilia and intracellular signaling, and (3) develop drug interventions targeting the underlying molecular mechanisms. As compounds targeting cellular signaling are in the clinics since many years, our results may open new, mechanism-based treatment avenues to patients suffering from ciliary diseases.

Specific requirements for PhD candidates for project 3:

We are looking for highly motivated and team-oriented candidates who aim to qualify for an academic career, and hold an academic university degree (Master or equivalent) in biology, biomedical sciences or a related field. The ideal candidate shows experiences in molecular genetics, molecular biology, cell culture and/or translational research. Knowledge in the methods of molecular biology, analysis of proteins with various techniques, culturing cells will be of advantage. Training/experience in analysis of biological pathways or interactions relevant to ciliopathies is a plus. Basic knowledge of the German or Dutch languages will be helpful, but not expected.