Medullary cystic kidney disease type 1 (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 MCKD1 patients. MUC1 transcription, targeted degradation of mutant MUC1 protein, 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:
- Kidney disease mutations found in a genetic blind spot (February 10th, 2013)