CN115427568A - Rp1相关视网膜变性的基于单倍型的治疗 - Google Patents

Rp1相关视网膜变性的基于单倍型的治疗 Download PDF

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CN115427568A
CN115427568A CN202180027183.4A CN202180027183A CN115427568A CN 115427568 A CN115427568 A CN 115427568A CN 202180027183 A CN202180027183 A CN 202180027183A CN 115427568 A CN115427568 A CN 115427568A
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grna
exon
nucleic acid
sequence
cas9
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刘勤
凯特琳·科林
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Massachusetts Eye and Ear
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Massachusetts Eye and Ear Infirmary
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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]
    • 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
    • A61K38/164—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from bacteria
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K9/00—Medicinal preparations characterised by special physical form
    • A61K9/0012—Galenical forms characterised by the site of application
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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
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    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • 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
    • C12N15/87—Introduction of foreign genetic material using processes not otherwise provided for, e.g. co-transformation
    • C12N15/90—Stable introduction of foreign DNA into chromosome
    • C12N15/902—Stable introduction of foreign DNA into chromosome using homologous recombination
    • C12N15/907—Stable introduction of foreign DNA into chromosome using homologous recombination in mammalian cells
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K9/00—Medicinal preparations characterised by special physical form
    • A61K9/0012—Galenical forms characterised by the site of application
    • A61K9/0019—Injectable compositions; Intramuscular, intravenous, arterial, subcutaneous administration; Compositions to be administered through the skin in an invasive manner
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • 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
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    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications
    • C12N2320/34—Allele or polymorphism specific uses
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2800/00—Nucleic acids vectors
    • C12N2800/80—Vectors containing sites for inducing double-stranded breaks, e.g. meganuclease restriction sites

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  • Genetics & Genomics (AREA)
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  • Wood Science & Technology (AREA)
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  • Pharmacology & Pharmacy (AREA)
  • Veterinary Medicine (AREA)
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  • Animal Behavior & Ethology (AREA)
  • Epidemiology (AREA)
  • Cell Biology (AREA)
  • Mycology (AREA)
  • Ophthalmology & Optometry (AREA)
  • Immunology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
CN202180027183.4A 2020-02-12 2021-02-12 Rp1相关视网膜变性的基于单倍型的治疗 Pending CN115427568A (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202062975636P 2020-02-12 2020-02-12
US62/975,636 2020-02-12
PCT/US2021/017942 WO2021163550A1 (en) 2020-02-12 2021-02-12 Haplotype-based treatment of rp1 associated retinal degenerations

Publications (1)

Publication Number Publication Date
CN115427568A true CN115427568A (zh) 2022-12-02

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CN202180027183.4A Pending CN115427568A (zh) 2020-02-12 2021-02-12 Rp1相关视网膜变性的基于单倍型的治疗

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US (2) US12129496B2 (https=)
EP (1) EP4103238A4 (https=)
JP (1) JP2023519101A (https=)
CN (1) CN115427568A (https=)
AU (1) AU2021219795A1 (https=)
WO (1) WO2021163550A1 (https=)

Families Citing this family (1)

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Publication number Priority date Publication date Assignee Title
US12171813B2 (en) 2021-02-05 2024-12-24 Christiana Care Gene Editing Institute, Inc. Methods of and compositions for reducing gene expression and/or activity

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2018026976A1 (en) * 2016-08-02 2018-02-08 Editas Medicine, Inc. Compositions and methods for treating cep290 associated disease
WO2019183630A2 (en) * 2018-03-23 2019-09-26 The Trustees Of Columbia University In The City Of New York Gene editing for autosomal dominant diseases
US20190345501A1 (en) * 2017-02-07 2019-11-14 Massachusetts Institute Of Technology Methods and compositions for rna-guided genetic circuits

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DE3023787A1 (de) 1980-06-25 1982-01-21 Studiengesellschaft Kohle mbH, 4330 Mülheim Verfahren zur erhoehung der inkorporation und der expression von genetischem material in die kerne von intakten zellen mit hilfe von liposomen
JPS57124055A (en) 1981-01-27 1982-08-02 Toyota Motor Corp Air-fuel ratio control device for engine
IL79289A (en) 1985-07-05 1992-01-15 Whitehead Biomedical Inst Introduction and expression of foreign genetic material into keratinocytes using a recombinant retrovirus
US4980286A (en) 1985-07-05 1990-12-25 Whitehead Institute For Biomedical Research In vivo introduction and expression of foreign genetic material in epithelial cells
ATE117375T1 (de) 1987-09-11 1995-02-15 Whitehead Biomedical Inst Transduktionsveränderte fibroblasten und ihre anwendung.
JP2914692B2 (ja) 1987-12-11 1999-07-05 ホワイトヘツド・インスチチユート・フオー・バイオメデイカル・リサーチ 内皮細胞の遺伝子修飾
WO1989007136A2 (en) 1988-02-05 1989-08-10 Whitehead Institute For Biomedical Research Modified hepatocytes and uses therefor
EP0452457B1 (en) 1989-11-03 1997-08-20 Vanderbilt University Method of in vivo delivery of functioning foreign genes
ES2096750T3 (es) 1990-10-31 1997-03-16 Somatix Therapy Corp Vectores retroviricos utiles para la terapia genica.
CN112301024A (zh) 2013-03-15 2021-02-02 通用医疗公司 使用RNA引导的FokI核酸酶(RFN)提高RNA引导的基因组编辑的特异性
CN106232618A (zh) 2013-10-11 2016-12-14 马萨诸塞眼科耳科诊所 预测祖先病毒序列的方法及其用途
KR20230156800A (ko) 2015-03-03 2023-11-14 더 제너럴 하스피탈 코포레이션 변경된 PAM 특이성을 갖는 조작된 CRISPR-Cas9 뉴클레아제
JP6799586B2 (ja) 2015-08-28 2020-12-16 ザ ジェネラル ホスピタル コーポレイション 遺伝子操作ＣＲＩＳＰＲ−Ｃａｓ９ヌクレアーゼ
US11591589B2 (en) 2017-04-21 2023-02-28 The General Hospital Corporation Variants of Cpf1 (Cas12a) with altered PAM specificity
US20210032612A1 (en) * 2018-02-22 2021-02-04 Avellino Lab Usa, Inc. CRISPR/Cas9 Systems, and Methods of Use Thereof
BR112020019079A2 (pt) * 2018-03-23 2020-12-29 Massachusetts Eye And Ear Infirmary Abordagem de salto de éxon mediada por crispr/cas9 para síndrome de usher associada a ush2a

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2018026976A1 (en) * 2016-08-02 2018-02-08 Editas Medicine, Inc. Compositions and methods for treating cep290 associated disease
US20190345501A1 (en) * 2017-02-07 2019-11-14 Massachusetts Institute Of Technology Methods and compositions for rna-guided genetic circuits
WO2019183630A2 (en) * 2018-03-23 2019-09-26 The Trustees Of Columbia University In The City Of New York Gene editing for autosomal dominant diseases

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Publication number Publication date
WO2021163550A1 (en) 2021-08-19
AU2021219795A1 (en) 2022-08-25
US20210269783A1 (en) 2021-09-02
JP2023519101A (ja) 2023-05-10
EP4103238A1 (en) 2022-12-21
US12129496B2 (en) 2024-10-29
CA3169991A1 (en) 2021-08-19
US20250115887A1 (en) 2025-04-10
EP4103238A4 (en) 2024-03-20

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