Autosomal dominant medullary cystic kidney disease 1 (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 MCKD1, 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 MCKD1, 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
Broad news stories
- February 2013: Kidney disease mutations found in a genomic blind spot