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Yong Li
Peggy Sekula
Ulla Schultheiß
Simone Meder
Erna Mitsch
Ursula Reinhard
Hanna Beck

Our group is situated in the Renal Division of the University Hospital of Freiburg (Director: Prof. Dr. G. Walz, Nephrolab). We are interested in risk factors for and consequences of chronic kidney disease and impaired renal solute handling. We are using existing epidemiologic studies and methods to identify such risk factors, with a focus on data generated from high-throughput approaches such as genomics and also metabolomics. We are also currently recruiting patients with impaired renal function into the German Chronic Kidney Disease (GCKD) Study, a large national cohort study.

The kidneys have a fundamental role in the excretion of waste products, fluid balance, and the homeostasis of serum electrolyte and small solute concentrations. These and other functions can be impaired once kidney disease develops. Chronic kidney disease (CKD) is the most common form of kidney disease with a prevalence of 5-10% in many countries. It is defined by a decreased filtration function of the kidneys or as kidney damage.

Our research focuses on three main areas:


I. Identification of genomic risk variants for chronic kidney disease, hyperuricemia and gout, and impaired electrolyte balance

Evidence from multiple previous studies suggests a genetic component to chronic kidney disease and kidney function measures. We are using different techniques such as genome-wide association studies in order to identify genetic risk variants. This work is carried out in the context of large international collaborations such as the CKDGen, GUGC, and CHARGE Consortia. Within these consortia, our group is working on data from the large population-based ARIC Study, in close collaboration with the groups of Prof. Linda Kao and Prof. Josef Coresh at the Johns Hopkins University in Baltimore, USA. One goal of our group is to initiate functional follow-up projects for disease-associated variants in order to provide new insights into the underlying pathophysiology.


II. Identification of additional risk factors or markers for chronic kidney disease, hyperuricemia and gout, and impaired electrolyte balance

Genetic risk factors may not directly lead to disease but operate via changes of one or more intermediate factors. We are therefore interested in identifying intermediate factors that associate with kidney disease and dysfunction. These factors can often be measured in biospecimen, either via conventional laboratory methods or via novel unbiased high-throughput approaches such as metabolomics. We are currently working on the identification of kidney disease associated serum metabolites in close collaboration with investigators at the Helmholtz Zentrum München, Germany.


III. Establishment of a Freiburg study site for the conduct of large cohort studies

As one of nine national study centers, our group is currently recruiting patients with chronic kidney disease into the GCKD Study. With an anticipated study population of 5000 patients, this will be the largest study of its kind. Patients will be followed over 10 years for the incidence of cardiovascular disease and end-stage renal disease, in order to identify novel risk factors and biomarkers and to gain insights into the progression of CKD.



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