Using Gene Editing to Tackle the Hereditary Kidney Disease ADPKD

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In a study published at the end of August in the journal Molecular Therapy, Michael Kaminski, Verena Klämbt, and Matteus Krappitz – all participants of the BIH Charité Clinician Scientist Program – report an advancement in the fight against autosomal dominant polycystic kidney disease (ADPKD). The project was supported by a BIH Booster Grant.

ADPKD is one of the most common hereditary diseases. It causes the formation of cysts in the kidneys and often in the liver, potentially leading to kidney failure over time. The only approved therapy to date targets symptoms and is often associated with severe side effects.

Together with researchers from the Max Delbrück Center, Charité – Universitätsmedizin Berlin, Yale University, and the University of Colorado, the team successfully used the CRISPR/Cas9 gene-editing tool to correct mutations in the PKD1 gene responsible for the disease-first in cell cultures, then in a mouse model.

One aspect is particularly promising: genome editing significantly reduced liver cyst formation in the treated mice - an effect the current medication does not achieve.

However, it remains unclear whether the therapy is also effective at later stages of the disease. The research team is now developing new delivery systems to enable the targeted treatment of kidney cells in the future.

This work represents a promising step toward a causal therapy for ADPKD - with the potential to sustainably improve the quality of life for affected patients.