Chronic kidney disease (CKD) is an increasingly prevalent condition with various
etiologies. Genetic factors are playing a significant role in many forms of CKD
but are poorly understood when it comes to their clinical implication.
We established our research group in August 2016. Our main focus is on studying the underlying mechanisms of hereditary CKD such as cystic kidney disease and disorders of kidney stone formation (e.g. nephrolithiasis, nephrocalcinosis).
Within this context, we are building a clinical data registry for patients with hereditary kidney stone disease and offer next generation sequencing (NGS)-based mutation analysis for known and novel genetic factors (More information). Patients can also be enrolled via a special nephrogenetic outpatient clinic (flyer).
We subsequently use in vitro and in vivo models to functionally characterize identified genetic variants for their predicted clinical impact.
Funding
