Title:
SYSTEM AND METHOD FOR HEALTH AND DISEASE MANAGEMENT USING CELL-FREE DNA
Document Type and Number:
WIPO Patent Application WO/2024/091028
Kind Code:
A1
Abstract:
The present invention relates to a system and method for more effectively determining a health status and diagnosing and predicting diseases by utilizing epigenome and mutation information of cfDNA fragments in body fluids and cfDNA fragment profiling. According to the present invention, by quantifying target tissue- or cell-derived cfDNA by calculating a DNA methylation density (DMD) and obtaining a circulating-target DNA candidate index (ctCandi) by using cfDNA methylation information contained in cfDNA fragments present in body fluids, information about health/disease management may be provided using only body fluid samples. In addition, cancer may be predicted and diagnosed early using cfDNA methylation information, fragment characteristics, and mutation information, and information about a health condition, such as aging, and diseases, may be monitored with high sensitivity and specificity using only body fluid samples.
Inventors:
KIM BYOUNG CHUL (KR)
KIM YEO JIN (KR)
JEON SUNG WON (KR)
JEON HA HYEON (KR)
UM HYO JIN (KR)
KIM BYUNG CHUL (KR)
BHAK JONG HWA (KR)
KIM YEO JIN (KR)
JEON SUNG WON (KR)
JEON HA HYEON (KR)
UM HYO JIN (KR)
KIM BYUNG CHUL (KR)
BHAK JONG HWA (KR)
Application Number:
PCT/KR2023/016767
Publication Date:
May 02, 2024
Filing Date:
October 26, 2023
Export Citation:
Assignee:
CLINOMICS INC (KR)
ULSAN NAT INST SCIENCE & TECH UNIST (KR)
ULSAN NAT INST SCIENCE & TECH UNIST (KR)
International Classes:
G16B40/00; C12Q1/6886; G06N3/04; G16B20/20; G16B30/10; G16H10/20; G16H10/40; G16H10/60; G16H50/20; G16H50/30
Domestic Patent References:
| WO2017212428A1 | 2017-12-14 |
Foreign References:
| KR20200032127A | 2020-03-25 |
Other References:
SHULI KANG, QINGJIAO LI, QUAN CHEN, YONGGANG ZHOU, STACY PARK, GINA LEE, BRANDON GRIMES, KOSTYANTYN KRYSAN, MIN YU, WEI WANG, FRAN: "CancerLocator: non-invasive cancer diagnosis and tissue-of-origin prediction using methylation profiles of cell-free DNA", GENOME BIOLOGY, vol. 18, no. 1, 1 December 2017 (2017-12-01), XP055682390, DOI: 10.1186/s13059-017-1191-5
CHIANG-CHING HUANG, MEIJUN DU, LIANG WANG: "Bioinformatics Analysis for Circulating Cell-Free DNA in Cancer", CANCERS, vol. 11, no. 6, 2019, pages 805, XP055697060, DOI: 10.3390/cancers11060805
KUN SUN, PEIYONG JIANG, K. C. ALLEN CHAN, JOHN WONG, YVONNE K. Y. CHENG, RAYMOND H. S. LIANG, WAI-KONG CHAN, EDMOND S. K. MA, STEP: "Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES, NATIONAL ACADEMY OF SCIENCES, vol. 112, no. 40, 6 October 2015 (2015-10-06), pages E5503 - E5512, XP055374200, ISSN: 0027-8424, DOI: 10.1073/pnas.1508736112
YEO JIN KIM: "A method for early diagnosis of lung cancer from tumor originated DNA fragments using plasma cfDNA methylome and fragmentome profiles", MOLECULAR AND CELLULAR PROBES., ACADEMIC PRESS, LONDON., GB, vol. 66, 1 December 2022 (2022-12-01), GB , pages 101873, XP093161965, ISSN: 0890-8508, DOI: 10.1016/j.mcp.2022.101873
CHIANG-CHING HUANG, MEIJUN DU, LIANG WANG: "Bioinformatics Analysis for Circulating Cell-Free DNA in Cancer", CANCERS, vol. 11, no. 6, 2019, pages 805, XP055697060, DOI: 10.3390/cancers11060805
KUN SUN, PEIYONG JIANG, K. C. ALLEN CHAN, JOHN WONG, YVONNE K. Y. CHENG, RAYMOND H. S. LIANG, WAI-KONG CHAN, EDMOND S. K. MA, STEP: "Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES, NATIONAL ACADEMY OF SCIENCES, vol. 112, no. 40, 6 October 2015 (2015-10-06), pages E5503 - E5512, XP055374200, ISSN: 0027-8424, DOI: 10.1073/pnas.1508736112
YEO JIN KIM: "A method for early diagnosis of lung cancer from tumor originated DNA fragments using plasma cfDNA methylome and fragmentome profiles", MOLECULAR AND CELLULAR PROBES., ACADEMIC PRESS, LONDON., GB, vol. 66, 1 December 2022 (2022-12-01), GB , pages 101873, XP093161965, ISSN: 0890-8508, DOI: 10.1016/j.mcp.2022.101873
Attorney, Agent or Firm:
JUNGJIN IP LAW FIRM (KR)
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