Center for Human Genetics

Institute for Medical Diagnostics

Bioscientia GmbH

Primary Tasks and Objectives

  • Coordination of Subproject 3 (Molecular characterisation of cystic kidney diseases and related ciliopathies)
  • NGS multi-gene panel targeted resequencing of patients with (poly)cystic kidney disease and related ciliopathies
  • Establishment of genotype-phenotype correlations and improved genetic screening algorithms
  • Whole-exome sequencing of patients negative for mutations in known disease genes
  • Specific targeted NGS of newly identified disease genes in large cohorts of mutation-negative patients

Leading Investigator

Prof. Dr. med. Carsten Bergmann

Center for Human Genetics, Bioscientia Institute for Medical Diagnostics GmbH

Leading Investigator P3

Carsten Bergmann is a trained clinical geneticist and since 2009 in charge of the Center for Human Genetics at Bioscientia, one of the largest facilities of this kind. He is actively engaged in the field of cystic and polycystic kidney disease and other ciliopathies for more than 15 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.

Further Links

Homepage Nephrolab Freiburg

Homepage Biosciencia Ingelheim