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WO2024238682A3 - Cask gene editing system - Google Patents

Cask gene editing system Download PDF

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Publication number
WO2024238682A3
WO2024238682A3 PCT/US2024/029505 US2024029505W WO2024238682A3 WO 2024238682 A3 WO2024238682 A3 WO 2024238682A3 US 2024029505 W US2024029505 W US 2024029505W WO 2024238682 A3 WO2024238682 A3 WO 2024238682A3
Authority
WO
WIPO (PCT)
Prior art keywords
cask
expression
mosaicism
caused
result
Prior art date
Legal status (The legal status 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 status listed.)
Pending
Application number
PCT/US2024/029505
Other languages
French (fr)
Other versions
WO2024238682A2 (en
Inventor
Kyle FINK
Julian HALMAI
Casiana Elenora GONZALEZ
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
University of California Berkeley
University of California San Diego UCSD
Original Assignee
University of California Berkeley
University of California San Diego UCSD
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 University of California Berkeley, University of California San Diego UCSD filed Critical University of California Berkeley
Publication of WO2024238682A2 publication Critical patent/WO2024238682A2/en
Publication of WO2024238682A3 publication Critical patent/WO2024238682A3/en
Anticipated expiration legal-status Critical
Pending legal-status Critical Current

Links

Classifications

    • 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]
    • 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
    • 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
    • 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
    • C12N9/0004—Oxidoreductases (1.)
    • C12N9/0071—Oxidoreductases (1.) acting on paired donors with incorporation of molecular oxygen (1.14)
    • 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
    • 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]

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Biomedical Technology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Enzymes And Modification Thereof (AREA)

Abstract

CASK-related disorders are caused by mutations in an important regulatory gene in the brain, calcium/calmodulin-dependent serine protein kinase (CASK) and can result in microcephaly with pontine and cerebellar hypoplasia (MICPCH), in addition to intellectual disability, and seizure activity. CASK-related Intellectual Disabilities (CASK-ID) predominantly affect the female population and are classified as X-linked neurodevelopmental disorders. CASK-ID is typically the result of a de novo loss of function mutation. As females have two Xchromosomes, disease causing mutations present with a 50/50 expression of mutant and wildtype, due to the mosaicism caused by random X-chromosome inactivation (XCI). This mosaicism presents an interesting therapeutic option of reactivating the intact allele in affected neurons. Disclosed herein are gene editing systems that can enhance in vivo CASK expression.
PCT/US2024/029505 2023-05-15 2024-05-15 Cask gene editing system Pending WO2024238682A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US202363502290P 2023-05-15 2023-05-15
US63/502,290 2023-05-15

Publications (2)

Publication Number Publication Date
WO2024238682A2 WO2024238682A2 (en) 2024-11-21
WO2024238682A3 true WO2024238682A3 (en) 2025-05-08

Family

ID=93520277

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2024/029505 Pending WO2024238682A2 (en) 2023-05-15 2024-05-15 Cask gene editing system

Country Status (1)

Country Link
WO (1) WO2024238682A2 (en)

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20150225717A1 (en) * 2012-08-07 2015-08-13 The General Hospital Corporation Selective Reactivation of Genes on the Inactive X Chromosome
US20160355796A1 (en) * 2013-12-12 2016-12-08 The Broad Institute Inc. Compositions and methods of use of crispr-cas systems in nucleotide repeat disorders
WO2021248023A2 (en) * 2020-06-05 2021-12-09 The Regents Of The University Of California Compositions and methods for epigenome editing
US20220389393A1 (en) * 2019-10-21 2022-12-08 The Regents Of The University Of California Compositions and methods for editing of the cdkl5 gene

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20150225717A1 (en) * 2012-08-07 2015-08-13 The General Hospital Corporation Selective Reactivation of Genes on the Inactive X Chromosome
US20160355796A1 (en) * 2013-12-12 2016-12-08 The Broad Institute Inc. Compositions and methods of use of crispr-cas systems in nucleotide repeat disorders
US20220389393A1 (en) * 2019-10-21 2022-12-08 The Regents Of The University Of California Compositions and methods for editing of the cdkl5 gene
WO2021248023A2 (en) * 2020-06-05 2021-12-09 The Regents Of The University Of California Compositions and methods for epigenome editing

Also Published As

Publication number Publication date
WO2024238682A2 (en) 2024-11-21

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