Autosomal dominant MUC1 kidney disease (MKD, also known as ADTKD-MUC1, and formerly called MCKD1) is a rare hereditary renal disease that ultimately requires dialysis or kidney transplantation for patients. For decades, scientists had known the genetic “neighborhood” of the mutation causing MKD, a 2-million-base region on chromosome 1, but the specific mutation had remained elusive. But through the application of genetic sequencing technology and analysis methods, SIGMA researchers were able to identify a single disease-causing mutation lying in a “blind spot” of modern sequencing techniques. This discovery makes it possible to screen for the disease, and opens the door for potential new therapeutic approaches.
As part of this effort to target MKD, SIGMA scientists have launched a full-scale chemical biology program aimed at developing novel drug leads for treating the disease.
- Journal of Molecular Diagnostics, 2016: Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease
- Nature Genetics, February 2013: Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing