Methods of diagnosing and treating medullary cystic kidney disease

US10370716B2 · kind B2 · utility

Assignees

• The Broad Institute, Inc. · US
• The General Hospital Corporation · US
• INSTITUTO CARLOS SLIM DE LA SALUD, A.C. · MX

Inventors

• Andrew James Kirby · Cyncoed, GB
• Andreas Gnirke · Wellesley, US
• Brendan Blumenstiel · Arlington, US
• Matthew DeFelice · Salem, US
• Mark Daly · Arlington, US

Key dates

• Filing date: Feb 10, 2015
• Grant date: Aug 6, 2019
• Expiry date: Feb 18, 2035

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q2600/156
• WIPO field: Biotechnology
• WIPO sector: Chemistry

Abstract

The present invention features a highly sensitive assay for detecting frameshift mutations for high throughput use. Also provided herein are methods for diagnosing or determining a predisposition for developing medullary cystic kidney disease type 1 (MCKD1) in a subject by detecting a frameshift mutation in the GC-rich variable number of tandem repeats (VNTR) sequence of the mucin 1 gene (MUC-1).