UNIVERSITY OF FREIBURG

	University of Freiburg
	Universitätsklinikum Freiburg – Klinik für Allgemeine Kinder- und Jugendmedizin

Primary Tasks and Objectives

development of clinical practice guidelines, position papers, standard operating procedures and/or workflow algorithms

Translational Project P5:

genetic variants on Xenopus laevis
Reprogramming tubular cells out of fibroblasts

Leading Investigators

	Dr. med. Charlotte Gimpel University Hospital Freiburg – Clinic for Pediatric and Adolescent Medicine Specialist in Pediatric Nephrology development of clinical practice guidelines, position papers, standard operating procedures and/or workflow algorithms
	Prof. Dr. med. Carsten Bergmann Leading investigator P3 – Genetics Translational Project P5 – Freiburg 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.
	PD Dr. Soeren Lienkamp Translational Project P5: genetic variants on Xenopus laevis

Dr. med. Charlotte Gimpel

University Hospital Freiburg – Clinic for Pediatric and Adolescent Medicine

Specialist in Pediatric Nephrology

development of clinical practice guidelines, position papers, standard operating procedures and/or workflow algorithms

Prof. Dr. med. Carsten Bergmann

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.