WO2021072387A1 - Procédés d'utilisation de marqueurs génétiques associés à l'endométriose - Google Patents

Procédés d'utilisation de marqueurs génétiques associés à l'endométriose Download PDF

Info

Publication number
WO2021072387A1
WO2021072387A1 PCT/US2020/055279 US2020055279W WO2021072387A1 WO 2021072387 A1 WO2021072387 A1 WO 2021072387A1 US 2020055279 W US2020055279 W US 2020055279W WO 2021072387 A1 WO2021072387 A1 WO 2021072387A1
Authority
WO
WIPO (PCT)
Prior art keywords
endometriosis
subject
mutation
variants
variant
Prior art date
Application number
PCT/US2020/055279
Other languages
English (en)
Inventor
Kenneth Ward
Rakesh Chettier
Hans Albertsen
Original Assignee
Juneau Biosciences, L.L.C.
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Juneau Biosciences, L.L.C. filed Critical Juneau Biosciences, L.L.C.
Publication of WO2021072387A1 publication Critical patent/WO2021072387A1/fr

Links

Classifications

    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H20/00—ICT specially adapted for therapies or health-improving plans, e.g. for handling prescriptions, for steering therapy or for monitoring patient compliance
    • G16H20/40—ICT specially adapted for therapies or health-improving plans, e.g. for handling prescriptions, for steering therapy or for monitoring patient compliance relating to mechanical, radiation or invasive therapies, e.g. surgery, laser therapy, dialysis or acupuncture
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Organic Chemistry (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Molecular Biology (AREA)
  • Zoology (AREA)
  • Biotechnology (AREA)
  • Wood Science & Technology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Surgery (AREA)
  • Urology & Nephrology (AREA)
  • Epidemiology (AREA)
  • Primary Health Care (AREA)
  • Public Health (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

L'invention concerne des procédés d'utilisation de marqueurs génétiques associés à l'endométriose, par exemple par l'intermédiaire d'un programme mis en œuvre par ordinateur pour prédire le risque de développer une endométriose, et des procédés de prévention ou de traitement de l'endométriose ou d'un symptôme de celle-ci.
PCT/US2020/055279 2019-10-10 2020-10-12 Procédés d'utilisation de marqueurs génétiques associés à l'endométriose WO2021072387A1 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201962913609P 2019-10-10 2019-10-10
US62/913,609 2019-10-10

Publications (1)

Publication Number Publication Date
WO2021072387A1 true WO2021072387A1 (fr) 2021-04-15

Family

ID=75437567

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2020/055279 WO2021072387A1 (fr) 2019-10-10 2020-10-12 Procédés d'utilisation de marqueurs génétiques associés à l'endométriose

Country Status (1)

Country Link
WO (1) WO2021072387A1 (fr)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN109811062A (zh) * 2019-02-20 2019-05-28 新疆农业大学 Fshr基因特异snp标记、和田乔达红羊产羔数性状的检测方法及其应用

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20160367568A1 (en) * 2013-03-07 2016-12-22 Juneau Biosciences, Llc Method of Testing for Endometriosis and Treatment Therefor
US20190249252A1 (en) * 2013-11-12 2019-08-15 Population Bio, Inc. Methods and compositions for diagnosing, prognosing, and treating endometriosis

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20160367568A1 (en) * 2013-03-07 2016-12-22 Juneau Biosciences, Llc Method of Testing for Endometriosis and Treatment Therefor
US20190249252A1 (en) * 2013-11-12 2019-08-15 Population Bio, Inc. Methods and compositions for diagnosing, prognosing, and treating endometriosis

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN109811062A (zh) * 2019-02-20 2019-05-28 新疆农业大学 Fshr基因特异snp标记、和田乔达红羊产羔数性状的检测方法及其应用
CN109811062B (zh) * 2019-02-20 2023-05-09 新疆农业大学 Fshr基因特异snp标记、和田乔达红羊产羔数性状的检测方法及其应用

Similar Documents

Publication Publication Date Title
US20200063202A1 (en) Methods of using genetic markers associated with endometriosis
US20170044610A1 (en) Compositions and methods for genetic analysis of embryos
US20230047963A1 (en) Gestational age assessment by methylation and size profiling of maternal plasma dna
US20170262580A1 (en) Methods and systems for assessing infertility and ovulatory function disorders
EP3596100A1 (fr) Procédés d'utilisation de marqueurs génétiques associés à l'endométriose
WO2021072387A1 (fr) Procédés d'utilisation de marqueurs génétiques associés à l'endométriose
WO2020051530A1 (fr) Procédés d'utilisation de marqueurs génétiques associés à l'endométriose
US20080306034A1 (en) Method of Administering a Therapeutic
Tang et al. Novel deleterious splicing variant in HFM1 causes gametogenesis defect and recurrent implantation failure: concerning the risk of chromosomal abnormalities in embryos
Manuck et al. Pharmacogenomics of 17‐alpha hydroxyprogesterone caproate for recurrent preterm birth: a case–control study
Zeber-Lubecka et al. Exome sequencing to explore the possibility of predicting genetic susceptibility to the joint occurrence of polycystic ovary syndrome and Hashimoto’s thyroiditis
US20210340617A1 (en) Endometriosis-associated genetic markers predict responsiveness to leuprolide acetate
Wang et al. De novo paternal FBN1 mutation detected in embryos before implantation
López-Rodrigo et al. Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia
US10525148B2 (en) Systems and methods for preclinical models of metastases
US20220235418A1 (en) Use of Biomarkers for Degenerative Disc Disease
Jung et al. Association between polymorphisms in renin-angiotensin system genes and primary ovarian insufficiency in Korean women
RU2433402C1 (ru) Способ прогнозирования площади миоматозных узлов при миоме матки
Garrido et al. Practical Guide to Sperm Analysis: Basic Andrology in Reproductive Medicine
WO2020223657A1 (fr) Contribution à un risque de cancer secondaire de mutations somatiques de facteurs du cancer dans les lésions d'endométriose
Cheung et al. Genetic profiling of azoospermic men to identify the etiology and predict reproductive potential
Chen Applying Forward Genetic Approaches to Rare Mendelian Disorders and Complex Traits
Lei et al. This article was submitted to Reproduction, a section of the journal Frontiers in Endocrinology RECEIVED 09 November 2022
Xu et al. Whole exome sequencing identifies a novel homozygous missense mutation of LHCGR gene in primary infertile women with empty follicle syndrome
Wang et al. Clinical practice and outcomes of preimplantation genetic testing for CMT1A using a novel direct detection method

Legal Events

Date Code Title Description
121 Ep: the epo has been informed by wipo that ep was designated in this application

Ref document number: 20873645

Country of ref document: EP

Kind code of ref document: A1

NENP Non-entry into the national phase

Ref country code: DE

122 Ep: pct application non-entry in european phase

Ref document number: 20873645

Country of ref document: EP

Kind code of ref document: A1