MUC1 kidney disease (MKD, also known as ADTKD-MUC1, and formerly called MCKD1) is a rare disorder characterized by autosomal dominant inheritance of tubulo-interstitial kidney disease. Recent studies have identified mutations in the mucin 1 (MUC1) gene as causal for this disease. Broad researchers have initiated a project aimed at modifying disease progression in affected MKD patients. MUC1 transcription, targeted degradation of mutant MUC1 protein (called MUC1-fs), and the potential for gene therapy will be evaluated as part of the therapeutic strategy. This work is conducted in collaboration with the Slim Initiative for Genomic Medicine in the Americas.
Kidney disease news from the Broad: