CA3221874A1 - Systems and methods for regulating aberrant gene expressions - Google Patents

Systems and methods for regulating aberrant gene expressions Download PDF

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Publication number
CA3221874A1
CA3221874A1 CA3221874A CA3221874A CA3221874A1 CA 3221874 A1 CA3221874 A1 CA 3221874A1 CA 3221874 A CA3221874 A CA 3221874A CA 3221874 A CA3221874 A CA 3221874A CA 3221874 A1 CA3221874 A1 CA 3221874A1
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Prior art keywords
dux4
target gene
gene
grna
heterologous
Prior art date
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Pending
Application number
CA3221874A
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English (en)
French (fr)
Inventor
Alexandra Sylvie Collin De L'hortet
Rosemarie Wenting TSOA
Abhinav ADHIKARI
Siddaraju BOREGOWDA
Daniel O. HART
Thomas Blair GAINOUS
Giovanni CAROSSO
Xiao Yang
Timothy Daley
Thao Nguyen Vu LUONG
Yanxia Liu
Tengyu KO
Amber Ruth SALZMAN
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Epicrispr Biotechnologies Inc
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Epicrispr Biotechnologies Inc
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Publication of CA3221874A1 publication Critical patent/CA3221874A1/en
Pending legal-status Critical Current

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    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • A61K38/43—Enzymes; Proenzymes; Derivatives thereof
    • A61K38/46—Hydrolases (3)
    • A61K38/465—Hydrolases (3) acting on ester bonds (3.1), e.g. lipases, ribonucleases
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • A61K31/7088—Compounds having three or more nucleosides or nucleotides
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P21/00—Drugs for disorders of the muscular or neuromuscular system
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P21/00—Drugs for disorders of the muscular or neuromuscular system
    • A61P21/04—Drugs for disorders of the muscular or neuromuscular system for myasthenia gravis
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • C07K14/4701—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
    • C07K14/4707—Muscular dystrophy
    • C—CHEMISTRY; METALLURGY
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    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/10—Processes for the isolation, preparation or purification of DNA or RNA
    • C12N15/102—Mutagenizing nucleic acids
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    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
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    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
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    • C12N15/09—Recombinant DNA-technology
    • C12N15/63—Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/79—Vectors or expression systems specially adapted for eukaryotic hosts
    • C12N15/85—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
    • C12N15/86—Viral vectors
    • C—CHEMISTRY; METALLURGY
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    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/10—Transferases (2.)
    • C12N9/1003—Transferases (2.) transferring one-carbon groups (2.1)
    • C12N9/1007—Methyltransferases (general) (2.1.1.)
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    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • C12N9/22—Ribonucleases [RNase]; Deoxyribonucleases [DNase]
    • C—CHEMISTRY; METALLURGY
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    • 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
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/20—Type of nucleic acid involving clustered regularly interspaced short palindromic repeats [CRISPR]
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2320/00—Applications; Uses
    • C12N2320/10—Applications; Uses in screening processes
    • C12N2320/11—Applications; Uses in screening processes for the determination of target sites, i.e. of active nucleic acids
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2750/00—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA ssDNA viruses
    • C12N2750/00011—Details
    • C12N2750/14011—Parvoviridae
    • C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14141—Use of virus, viral particle or viral elements as a vector
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    • C12N2840/00—Vectors comprising a special translation-regulating system
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  • Toxicology (AREA)
  • Immunology (AREA)
  • Analytical Chemistry (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
CA3221874A 2021-06-17 2022-06-16 Systems and methods for regulating aberrant gene expressions Pending CA3221874A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202163211791P 2021-06-17 2021-06-17
US63/211,791 2021-06-17
PCT/US2022/033797 WO2022266324A1 (en) 2021-06-17 2022-06-16 Systems and methods for regulating aberrant gene expressions

Publications (1)

Publication Number Publication Date
CA3221874A1 true CA3221874A1 (en) 2022-12-22

Family

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CA3221874A Pending CA3221874A1 (en) 2021-06-17 2022-06-16 Systems and methods for regulating aberrant gene expressions

Country Status (11)

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US (1) US20240216482A1 (enExample)
EP (1) EP4355357A4 (enExample)
JP (1) JP2024523394A (enExample)
KR (1) KR20240032038A (enExample)
CN (1) CN117940150A (enExample)
AU (1) AU2022293494A1 (enExample)
CA (1) CA3221874A1 (enExample)
GB (1) GB2624791A (enExample)
IL (1) IL309174A (enExample)
MX (1) MX2023014750A (enExample)
WO (1) WO2022266324A1 (enExample)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR20230076820A (ko) 2020-09-01 2023-05-31 더 보드 어브 트러스티스 어브 더 리랜드 스탠포드 주니어 유니버시티 진핵생물 유전체 공학을 위한 합성 미니어처 crispr-cas(casmini) 시스템
JP2025507822A (ja) 2022-03-01 2025-03-21 エピクリスパー バイオテクノロジーズ， インコーポレイテッド 組換えヌクレアーゼならびにその組成物および使用方法
CN121127598A (zh) * 2023-03-16 2025-12-12 埃皮克里斯皮尔生物技术公司 用于调控异常基因表达的系统和方法
CN119955797B (zh) * 2025-01-13 2026-01-23 江南大学 Kif5b基因在调控成肌细胞生理活性中的功能和应用
CN119954926B (zh) * 2025-03-11 2025-10-28 华南农业大学 Klf5转录因子在调控猪骨骼肌发育中的应用及方法

Family Cites Families (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP1107789B1 (en) 1998-08-24 2008-06-25 The Board Of Trustees Of The Leland Stanford Junior University Compositions and methods for protecting organs, tissue and cells from immune system-mediated damage
EP3443081A4 (en) * 2016-04-13 2019-10-30 Duke University CRISPR / CAS9-BASED REPRESSORS FOR IN VIVO SHUT-OFF OF GEN-TARGETS AND METHOD OF USE
EP3515506B1 (en) * 2016-09-23 2023-09-13 University of Massachusetts Silencing of dux4 by recombinant gene editing complexes
US11160823B2 (en) * 2016-11-07 2021-11-02 University Of Massachusetts Therapeutic targets for facioscapulohumeral muscular dystrophy
US11807877B1 (en) * 2018-03-22 2023-11-07 National Technology & Engineering Solutions Of Sandia, Llc CRISPR/Cas activity assays and compositions thereof
JP2022516515A (ja) * 2018-12-31 2022-02-28 リサーチ インスティチュート アット ネイションワイド チルドレンズ ホスピタル Ｒｎａ標的化ｃｒｉｓｐｒ－ｃａｓ１３ｂを使用するｄｕｘ４ ｒｎａ発現停止
WO2020142739A1 (en) * 2019-01-04 2020-07-09 Mammoth Biosciences, Inc. COMPOSITIONS AND METHODS FOR DETECTING MODIFIED NUCLEIC ACIDS AND AMPLIFYING ssDNA
WO2022133062A1 (en) * 2020-12-16 2022-06-23 Epicrispr Biotechnologies, Inc. Systems and methods for engineering characteristics of a cell

Also Published As

Publication number Publication date
KR20240032038A (ko) 2024-03-08
EP4355357A4 (en) 2025-08-20
GB202319324D0 (en) 2024-01-31
AU2022293494A1 (en) 2024-01-04
GB2624791A (en) 2024-05-29
IL309174A (en) 2024-02-01
EP4355357A1 (en) 2024-04-24
JP2024523394A (ja) 2024-06-28
MX2023014750A (es) 2024-03-08
WO2022266324A1 (en) 2022-12-22
CN117940150A (zh) 2024-04-26
US20240216482A1 (en) 2024-07-04

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