CENTOGENE provides genetic testing and consultation for the most efficient diagnosis of inherited kidney-related diseases. Recent advances in genetic techniques provide many important insights into kidney disease diagnosis, classification, pathogenesis, and time-sensitive therapy options. Having identified genetic variants associated with nephrological diseases in more than 300 different genes, we can support you in providing your patients with rapid, effective genetic testing to get a clear understanding of their condition.
Articles on Nephrology
-
A Novel Therapeutic Concept for Fabry Disease
Fabry disease is caused by mutations that affect the lysosomal enzyme α-galactosidase, but the pathophysiology of the disease remains to be completely understood. A recent study that was co-authored by CENTOGENE’s CEO Prof. Arndt Rolfs revealed misfolding of mutant α-galactosidase in the endoplasmic…
-
Novel Genetic Cause for Absence of Kidneys
Renal defects are rather common in inherited disorders, while absence of kidneys is very rare. A focused analysis of CENTOGENE’s data repository CentoMD® revealed loss-of-function mutations in GFRA1 as a novel cause for this lethal condition. These findings were published in the Journal of the…
-
Moving Towards New Therapies for Fabry Disease
Fabry disease is a multi-system lysosomal storage disorder. As it is caused by an enzyme deficiency, enzyme replacement therapy is the standard treatment option. To overcome some of the issues with this strategy, alternatives are being explored through a collaborative effort involving researchers…
-
A new biomarker function for a long-known hormone
Adiponectin is a hormone with well-known relevance to cardiac and renal function. As Fabry disease (FD), a rare metabolic disorder, often manifests with cardiac and/or renal symptoms, researchers at CENTOGENE examined a potential link to adiponectin. Their finding of plasma adiponectin levels to…
-
Enfermedad de Hunter: Cuando sospecharla, como diagnosticarla y el estudio clínico de CENTOGENE: Bio-Hunter
¿Estas interesado en aprender más sobre la enfermedad de Hunter- un desorden de depósito lisosomal causante de una serie de alteraciones en órganos como el corazón, sistema nervioso central y óseo?