HSD17B13 variants and uses thereof

US11845963B2 · kind B2 · utility

Assignee

• REGENERON PHARMACEUTICALS, INC. · US

Inventors

• Noura S. Abul-Husn · New York, US
• Omri GOTTESMAN · Sierra Sky Park, US
• Alexander Li · White Plains, US
• Xiping Cheng · Millwood, US
• Yurong Xin · Tarrytown, US
• Jesper Gromada · Scarsdale, US
• Frederick Dewey · Winchester, US
• Aris Baras · Tarrytown, US
• Alan Shuldiner · Columbia, US

Key dates

• Filing date: Jan 19, 2018
• Grant date: Dec 19, 2023
• Expiry date: Jan 19, 2038

Classification

• Technology area (CPC G): Physics
• CPC primary: G01N2800/085
• WIPO field: Pharmaceuticals
• WIPO sector: Chemistry

Abstract

Provided are compositions related to HSD17B13 variants, including nucleic acid molecules and polypeptides related to variants of HSD17B13, and cells comprising those nucleic acid molecules and polypeptides. Also provided are methods related to HSD17B3 variants. Such methods include methods for detecting the presence of the HSD17B13 rs72613567 variant in a biological sample comprising genomic DNA, for detecting the presence or levels of any one of variant HSD17B13 Transcripts C, D, E, F, G, and H, and particularly D, in a biological sample comprising mRNA or cDNA, or for detecting the presence or levels of any one of variant HSD17B13 protein Isoforms C, D, E, F, G, or H, and particularly D, in a biological sample comprising protein. Also provided are methods for determining a subject's susceptibility to developing a liver disease or of diagnosing a subject with liver disease.