Section for Nephrogenetics

The focus of our research activities is to try to understand the molecular mechanisms of renal diseases. See also www.simons-lab.de.

Using human genetic and experimental data, we aim to understand how kidney cells lose their normal function as a result of genetic alterations. Likewise, we try to identify variants that may suggest a protective effect in certain diseases. We are particularly interested in proximal tubule cells and their repective diseases.

OUR MAIN AREAS OF RESEARCH

1. Function and metabolism of proximal tubule cells
2. Inhibition of protein- and lipid uptake in proximal tubule cells as a nephroprotective strategy (ERC-Consolidator Grant: RENOPROTECT)
3. Pathogenesis of cystinosis
4. Molecular mechanisms of renal development and congenital anomalies of the renal and urinary tract (CAKUT)
5. Use of Drosophila for functional validation of new candidate genes for inherited diseases
6. Role of common gene variants in renal disease progression

For more information, please visit us at: www.simons-lab.de

Our Section for Nephrogenetics also offers genetic counseling for patients with hereditary renal diseases and their families. For appointments, please contact the Genetics Outpatient Clinic of the Institute of Human Genetics (phone : +49 6221 56-5087). In addition, our Molecular Genetics Laboratory offers nephrogenetic diagnostics as single exome sequencing (link to our requisition form: https://www.klinikum.uni-heidelberg.de/fileadmin/inst_humangenetik/2019/ANF_MOL_V3_2020.pdf).