Patent SG-11201906735R-A (SG)
Title: Hydroxysteroid 17-beta dehydrogenase 13 (hsd17b13) variants and uses thereof
Inventor: ABUL-HUSN NOURA S
IPC: C12Q1/6883
Filed: 2018-01-19
Abstract: INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (43) International Publication Date 26 July 2018 (26.07.2018) WIPO I PCT omit °nolo oimIE (10) International Publication Number WO 2018/136702 Al (51) International Patent Classification: C12Q 1/6883 (2018.01) (21) International Application Number: PCT/US2018/014357 (22) International Filing Date: 19 January 2018 (19.01.2018) (25) Filing Language: English (26) Publication Language: English (30) Priority Data: 62/449,335 23 January 2017 (23.01.2017) US 62/472,972 17 March 2017 (17.03.2017) US 62/581,918 06 November 2017 (06.11.2017) US (71) Applicant: REGENERON PHARMACEUTICALS, INC. [US/US]; 777 Old Saw Mill River Road, Tarrytown, New York 10591 (US). (72) Inventors: ABUL-HUSN, Noura S.; 777 Old Saw Mill River Road, Tarrytown, New York 10591 (US). GOTTES- MAN, Omri; 777 Old Saw Mill River Road, Tarrytown, New York 10591 (US). LI, Alexander; 777 Old Saw Mill River Road, Tarrytown, New York 10591 (US). CHENG, Xiping; 777 Old Saw Mill River Road, Tarrytown, New York 10591 (US). XIN, Yurong; 777 Old Saw Mill Riv- er Road, Tarrytown, NY 10591 (US). GROMADA, Jes- per; 777 Old Saw Mill River Road, Tarrytown, New York 10591 (US). DEWEY, Frederick E.; 777 Old Saw Mill River Road, Tarrytown, New York 10591 (US). BARAS, Aris; 777 Old Saw Mill River Road, Tarrytown, New York 10591 (US). SHULDINER, Alan; 777 Old Saw Mill River Road, Tarrytown, New York 10591 (US). (74) Agent: LEGAARD, Paul K.; Stradley Ronon Stevens & Young, LLP, 30 Valley Stream Parkway, Malvern, Penn- sylvania 19355-1481 (US). (81) Designated States (unless otherwise indicated, for every kind of national protection available): AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JO, JP, KE, KG, KH, KN, KP, KR, KW, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. (84) Designated States (unless otherwise indicated, for every kind of regional protection available): ARIPO (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR), OAPI (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG). Declarations under Rule 4.17: as to applicant's entitlement to apply for and be granted a patent (Rule 4.1700) as to the applicant's entitlement to claim the priority of the earlier application (Rule 4.17(iii)) Published: with international search report (Art. 21(3)) before the expiration of the time limit for amending the claims and to be republished in the event of receipt of amendments (Rule 48.2(h)) with sequence listing part of description (Rule 5.2(a)) 1-1 N 1-1 O N 1-1 00 O r•i C (54) Title: HYDROXYSTEROID 17-BETA DEHYDROGENASE 13 (HSD17B13) VARIANTS AND USES THEREOF (57) : 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 HSD17B13 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.