Patent SG-11201810544W-A (SG)
Title: Detecting hematological disorders using cell-free dna in blood
Inventor: LO YUK-MING DENNIS
IPC: C12Q1/68
Filed: 2017-05-30
Abstract: INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property 1111111011111111101 IIIIIIIIIIIIIIIIIII10010101101111111111111111110111111111110111111 Organization International Bureau (10) International Publication Number (43) International Publication Date ......0\" WO 2017/206888 Al 07 December 2017 (07.12.2017) WIP0 I PCT (51) International Patent Classification: EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, C12Q 1/68 (2006.01) MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, (21) International Application Number: TR), OAPI (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, PCT/CN2017/086509 KM, ML, MR, NE, SN, TD, TG). (22) International Filing Date: Published: 30 May 2017 (30.05.2017) — with international search report (Art. 21(3)) (25) Filing Language: English (26) Publication Language: English (30) Priority Data: 62/343,050 30 May 2016 (30.05.2016) US (71) Applicant: THE CHINESE UNIVERSITY OF HONG KONG [CN/CN]; Office of Research and Knowledge Transfer Services, Room 301, Pi Ch'iu Building, Shatin, New Territories, Hong Kong 999077 (CN). (72) Inventors: LO, Yuk-Ming Dennis; 4th Floor, 7 King Tak Street, Homantin, Kowloon, Hong Kong 999077 (CN). _ CHIU, Rossa Wai Kwun; House 31, Double Haven, 52 Ma Lok Path, Shatin, New Territories, Hong Kong 999077 — (CN). CHAN, Kwan Chee; Flat C, 15th Floor, Block 5, Peak One, Mei Tin Road, Shatin, New Territories, Hong = Kong 999077 (CN). SUN, Kun; Room 711, Block A, Staff =_ Quarters, Prince of Wales Hospital, 30-32 Ngan Sling = Street, Shatin, New Territories, Hong Kong 999077 (CN). Agent: INSIGHT INTELLECTUAL PROPERTY (74) LIMITED; 19 A, Tower A, InDo Building, No.48A _ Zhichun Road, Haidian District, Beijing 100098 (CN). = Designated States (unless otherwise indicated, for every = (81) = kind of national available): AE, AG, AL, AM, protection = 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, 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, — 1-1 TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, DK, GC QC (54) Title: DETECTING HEMATOLOGICAL DISORDERS USING CELL-FREE DNA IN BLOOD GC (57) : Techniques are provided for detecting hematological disorders using cell-free DNA in a blood sample, e.g., using plasma © or serum. For example, an assay can target one or more differentially-methylated regions specific to a particular hematological cell ei ---- lineage (e.g., erythroblasts). A methylation level can be quantified from the assay to determine an amount of methylated or unmethylated IN DNA fragments in a cell-free mixture of the blood sample. The methylation level can be compared to one or more cutoff values, e.g., 1-1 © that correspond to a normal range for the particular hematological cell lineage as part of determining a level of a hematological disorder. ei O