It has recently been shown that approx. 10% of all kidney diseases are caused by a genetic mutation. Based on the histology of the kidney biopsy, no statement can be made about the underlying genetic mutation.
In the meantime, mutations have been identified in >695 genes that can cause genetic kidney disease. In cooperation with the Institute of Human Genetics at the MHH, genetic testing is carried out on our patients. Whole-genome sequencing (WGS) is used as the procedure. Genetic testing is carried out with the aim of individualizing the therapy for each patient.
If a mutation is identified, it will be further investigated in the cell culture model and in the zebrafish model. Furthermore, skin biopsies will be taken from patients with mutations in order to further investigate the specific mutations in the fibroblasts in cell culture at the molecular level. The aim is to investigate the pathogenesis of the disease and thus new therapeutic approaches.
Competencies of the specialist center
- Patient care
- studies
- research
- Second opinions
- Advice for colleagues
- Teaching
Contact details
Hannover Medical School
Centre for Rare Diseases OE 5130
B-Center for Genetic Kidney Diseases
Carl-Neuberg-Str. 1
30625 Hannover
You can find further information under the following links:
Further information can be found under the following links:
- To the website "Portal for rare diseases and orphan drugs" Orphanet
- To the website "Care atlas for people with rare diseases" SE-Atlas
- To the website "Alliance of Chronic Rare Diseases" ACHSE e.V.
Please refer to the list below for an overview of ZSE specialist centers participating in registries:
Clinical trials with the participation of ZSE-B centers:
You can download the current publications of this ZSE-B center as PDF files under the following link: