AU2021219795A1 - Haplotype-based treatment of RP1 associated retinal degenerations - Google Patents

Haplotype-based treatment of RP1 associated retinal degenerations Download PDF

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Publication number
AU2021219795A1
AU2021219795A1 AU2021219795A AU2021219795A AU2021219795A1 AU 2021219795 A1 AU2021219795 A1 AU 2021219795A1 AU 2021219795 A AU2021219795 A AU 2021219795A AU 2021219795 A AU2021219795 A AU 2021219795A AU 2021219795 A1 AU2021219795 A1 AU 2021219795A1
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grna
exon
cell
nucleic acid
gene
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AU2021219795A
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Inventor
Caitlin COLLIN
Qin Liu
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Massachusetts Eye and Ear
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Massachusetts Eye and Ear Infirmary
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Publication of AU2021219795A1 publication Critical patent/AU2021219795A1/en
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    • 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
    • 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
    • A61K9/0048—Eye, e.g. artificial tears
    • 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
    • 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
    • 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
    • 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
    • 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
    • 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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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Wood Science & Technology (AREA)
  • Organic Chemistry (AREA)
  • Zoology (AREA)
  • Molecular Biology (AREA)
  • Biomedical Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Medicinal Chemistry (AREA)
  • Plant Pathology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Epidemiology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Cell Biology (AREA)
  • Mycology (AREA)
  • Ophthalmology & Optometry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Immunology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
AU2021219795A 2020-02-12 2021-02-12 Haplotype-based treatment of RP1 associated retinal degenerations Pending AU2021219795A1 (en)

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
AU2021219795A1 true AU2021219795A1 (en) 2022-08-25

Family

ID=77292955

Family Applications (1)

Application Number Title Priority Date Filing Date
AU2021219795A Pending AU2021219795A1 (en) 2020-02-12 2021-02-12 Haplotype-based treatment of RP1 associated retinal degenerations

Country Status (6)

Country Link
US (2) US12129496B2 (enExample)
EP (1) EP4103238A4 (enExample)
JP (1) JP2023519101A (enExample)
CN (1) CN115427568A (enExample)
AU (1) AU2021219795A1 (enExample)
WO (1) WO2021163550A1 (enExample)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
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

Family Cites Families (19)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
AU6131086A (en) 1985-07-05 1987-01-30 Whitehead Institute For Biomedical Research Epithelial cells expressing foreign genetic material
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
DE3852823T2 (de) 1987-09-11 1995-05-24 Hughes Howard Med 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
EP0400047B1 (en) 1988-02-05 1997-04-23 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
EP0556345B2 (en) 1990-10-31 2005-10-12 Cell Genesys, Inc. Retroviral vectors useful for gene therapy
US10378027B2 (en) 2013-03-15 2019-08-13 The General Hospital Corporation RNA-guided targeting of genetic and epigenomic regulatory proteins to specific genomic loci
NZ718926A (en) 2013-10-11 2021-12-24 Massachusetts Eye & Ear Infirmary Methods of predicting ancestral virus sequences and uses thereof
JP6817215B2 (ja) 2015-03-03 2021-01-20 ザ ジェネラル ホスピタル コーポレイション 変更ＰＡＭ特異性を有する遺伝子操作ＣＲＩＳＰＲ−Ｃａｓ９ヌクレアーゼ
AU2016316845B2 (en) 2015-08-28 2022-03-10 The General Hospital Corporation Engineered CRISPR-Cas9 nucleases
CA3032822A1 (en) * 2016-08-02 2018-02-08 Editas Medicine, Inc. Compositions and methods for treating cep290 associated disease
WO2019165322A1 (en) 2018-02-22 2019-08-29 Moore Tara Crispr/cas9 systems, and methods of use thereof
WO2018148246A1 (en) * 2017-02-07 2018-08-16 Massachusetts Institute Of Technology Methods and compositions for rna-guided genetic circuits
ES2992912T3 (en) 2017-04-21 2024-12-19 Massachusetts Gen Hospital Variants of cpf1 (cas12a) with altered pam specificity
US20210017509A1 (en) * 2018-03-23 2021-01-21 The Trustees Of Columbia University In The City Of New York Gene Editing for Autosomal Dominant Diseases
AU2019237541B2 (en) 2018-03-23 2025-02-13 Editas Medicine, Inc. CRISPR/Cas9-mediated exon-skipping approach for USH2A-associated Usher syndrome

Also Published As

Publication number Publication date
CA3169991A1 (en) 2021-08-19
US12129496B2 (en) 2024-10-29
WO2021163550A1 (en) 2021-08-19
EP4103238A1 (en) 2022-12-21
CN115427568A (zh) 2022-12-02
EP4103238A4 (en) 2024-03-20
JP2023519101A (ja) 2023-05-10
US20250115887A1 (en) 2025-04-10
US20210269783A1 (en) 2021-09-02

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