Prof. Dr. med. Martin Konrad

Director Pediatric Nephrology

NEOCYST – Principal investigator

Prof. M. Konrad and his group built up a research unit integrating clinical, genetic and physiologic research activities dealing with inherited renal tubular disorders. They identified several gene defects (TRPM6, digenic CLCNKA/B mutations, CLDN19, CYP24A1) and established clear-cut genotype/phenotype correlations. From 1996-2000, these studies were carried out by a European Consortium for Bartter syndrome. The group of Prof. Konrad has collected one of the largest patient cohorts worldwide (>500 patients) as a basis for successful continuation of this approach. Together, the Münster group has set-up a web-based patient registry for nephronophthisis and related disorders with the official support of the GPN in 2011 (www.nephreg.de), which harbours 131 patients at the Moment.

Dr. med. Jens König

Consultant Pediatric Nephrology

NEOCYST – Principal investigator

Jens König is a pediatric nephrologist and works as a consultant at the Department of Pediatrics at the University Hospital of Münster. The scientific focus of Jens König lies on cystic kidney diseases of the childhood with a special expertise on nephronophthisis (NPH) and NPH related ciliopathies (NPH-RC). To this end he established and heads a prospective national registry on NPH and related ciliopathies (www.nephreg.de) and was able to collect clinical and genetic data on more than 150 patients so far. This clinical registry functions as a core feature of the newly established NEOCYST registry study. Within the NEOCYST consortium Jens König is responsible for the central coordination of the consortium and has the lead of subproject P1.

Prof. Dr. med. Heymut Omran

Director University Hospital for Pediatric and Adolescent Medicine

Principal investigator translational Project P5

Heymut Omran is the Director of the Department of General Pediatrics of the University Hospital Muenster. His lab is working on the molecular pathogenesis of cilia dysfunction (ciliopathies). He was active in the identification and characterization of several genes responsible for pediatric renal diseases and initiated the Nephronophtisis Registry.

His scientific achievements are acknowledged with several awards such as the Eva Luise Köhler Research Prize for Rare Diseases and the Hans Bloemendal Medal for Groundbreaking Studies on Ciliopathies. Heymut Omran is Member of the Leopoldina National Academy of Sciences and the North Rhine Westphalian Academy of Sciences and Arts.

Dr. rer. nat. Petra Pennekamp

Leading investigator translational Project P5

Petra Pennekamp (biologist) has a broad expertise in inherited diseases affecting cilia structure and function (ciliopathies) including cystic kidney diseases. Her field of expertise covers genetic analyses, developmental biology, histology, immunofluorescence microscopy and ultrastructural analyses using different electron microscopy techniques.

• Characterization of cilia structure using immunofluorescence microscopy and electron microscopy
• genotype-/phenotype correlations
• establishment of patient specific cell lines for structural and functional analyses

Mareike Dahmer-Heath

Research Officer

NEOCYST – Consortium Manager

Principal investigator project 1 and 2  

• Central consortium coordination
• Project coordination
• Data validation, analysis and publication
• Characterization of olfactory function in patients
• Characterization of human cilia structure using immunofluorescence microscopy and electron microscopy
• genotype-/phenotype correlations

Sabine Kollmann

Study Nurse

• Recruitment of clinical data and biological samples
• Data documentation and validation
• Patient coordination
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