Rare Kidney Diseases

The Centre for Rare Kidney Diseases (CeRKiD) opened in 2018 at Charité and offers specialized care for rare and genetic kidney conditions such as cystic kidney disease, tubulopathies, metabolic disorders, and rare forms of hypertension (Etges, A. et al., 2022). Following an initial evaluation, patients undergo clinical genetic testing at Labor Berlin, which is typically done using exome sequencing and virtual panel based analysis. We use the TBase electronic health record system for phenotyping in HPO terms, which is supplemented by SAMS (Symptom Annotation Made Simple) for precise symptom annotation.

With the individual's informed consent, diagnostic sequencing data is transferred to CUBI within CADS for further analysis using cutting-edge research tools such as VarFish, which allows for in-depth sequencing analysis. We conduct virtual case discussions with an international panel of experts in clinically or genetically complex cases. Selected unresolved cases are advanced to research-based genome sequencing, which includes family members for more comprehensive genetic insights.

The standardization of genetic data specific to kidney diseases is an important component of our diagnostic and research pipeline, allowing our team to identify and understand disease-causing genes (www.kidney-genetics.org). Within CADS, the CeRKiD is also involved in large cohort studies such as GCKD (German Chronic Kidney Disease) with over 5000 sequenced samples. By applying novel methodologies to these cohorts, we can improve our understanding and identification of novel genes involved in rare kidney diseases. Our commitment extends to participating in global collaborative gene discovery efforts.

The insights gained from these clinically and genetically defined cohorts are critical for developing therapeutic strategies and tailoring clinical trials for rare kidney diseases, ultimately leading to more personalized and effective treatments.