Medical Direction and Management
Primary Tasks and Objectives
The primary goal of this subproject is to provide a platform for rapid, comprehensive and specific genetic testing in a broad spectrum of cystic kidney diseases and ciliopathies. A clear diagnosis will serve as the basis for genetic counselling, genotype-phenotype correlations and improved clinical management of patients. In patients found to be negative for mutations in known genes, we will try to identify new genes by whole-exome sequencing.
|Prof. Dr. med. Carsten Bergmann
Head & Medical Director,
Center for Human Genetics, Mainz
Leading Investigator P3
Carsten Bergmann is a trained clinical geneticist he is actively engaged in the field of cystic and polycystic kidney disease and other ciliopathies for more than 20 years. Back in 2002, he and others identified the PKHD1 gene for ARPKD. Next he established the widely used mutation database for this disease. His group contributed to the identification and characterization of more than 20 disease genes and oversees one of the largest cohorts of patients with PKD and related ciliopathies. Current research activities focus on the characterization of newly identified disease genes and the translation of genetic findings into mechanistic studies.