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1. WO2021092227 - DIFFERENTIAL KNOCKOUT OF AN ALLELE OF A HETEROZYGOUS ELANE GENE USING GUIDES 21-30 NUCLEOTIDES IN LENGTH

Publication Number WO/2021/092227
Publication Date 14.05.2021
International Application No. PCT/US2020/059186
International Filing Date 05.11.2020
IPC
A61K 48/00 2006.01
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
KPREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
48Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
A61P 7/00 2006.01
AHUMAN NECESSITIES
61MEDICAL OR VETERINARY SCIENCE; HYGIENE
PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
7Drugs for disorders of the blood or the extracellular fluid
C12N 15/63 2006.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
15Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09Recombinant DNA-technology
63Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
C12N 15/79 2006.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
15Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09Recombinant DNA-technology
63Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
79Vectors or expression systems specially adapted for eukaryotic hosts
Applicants
  • EMENDOBIO INC. [US]/[US] (AllExceptUS)
  • BARAM, David [IL]/[IL] (US)
  • IZHAR, Lior [IL]/[IL] (US)
  • HERMAN, Asael [IL]/[IL] (US)
  • EMMANUEL, Rafi [IL]/[IL] (US)
  • ROCKAH, Liat [IL]/[IL] (US)
  • MARBACH BAR, Nadav [IL]/[IL] (US)
  • GOLAN MASHIACH, Michal [IL]/[IL] (US)
  • GEORGESON, Joseph [IL]/[IL] (US)
Inventors
  • BARAM, David
  • IZHAR, Lior
  • HERMAN, Asael
  • EMMANUEL, Rafi
  • ROCKAH, Liat
  • MARBACH BAR, Nadav
  • GOLAN MASHIACH, Michal
  • GEORGESON, Joseph
Agents
  • GERSHIK, Gary, J.
Priority Data
62/931,65906.11.2019US
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) DIFFERENTIAL KNOCKOUT OF AN ALLELE OF A HETEROZYGOUS ELANE GENE USING GUIDES 21-30 NUCLEOTIDES IN LENGTH
(FR) INACTIVATION DIFFÉRENTIELLE D'UN ALLÈLE D'UN GÈNE D'ELANE HÉTÉROYZYGOTE À L'AIDE DE GUIDES DE 21 À 30 NUCLÉOTIDES DE LONGUEUR
Abstract
(EN)
Methods for inactivating in a cell a mutant allele of the elastase, neutrophil expressed gene (ELANE gene) gene having a mutation associated with severe congenital neutropenia (SCN) or cyclic neutropenia (CyN) and which cell is heterozygous at one or more polymorphic sites selected from the group consisting of: rs 10424470, rs4807932, rsl0414837, rs376107533, rs3761010, rs351108, rs3826946, rs 10413889, rs3761007, rs 10409474, rs3761005, rs351107, rs3761001, rs740021, rs781452480, rs371057361, rs570466264, rs 1041904080, rs7250194, rs 17216649, rs 199720952, rs6510983, rs 17223066, rs7255385, rs9749274, rslll361200, rsl 12639467, rsl41213775, rs28591229, rs 10469327, rs3834645, rsl683564, rs71335276, and rs8107095, the method comprising introducing to the cell a composition comprising a CRISPR nuclease or a sequence encoding the CRISPR nuclease; and a first RNA molecule comprising a guide sequence portion having 21-30 nucleotides, wherein a complex of the CRISPR nuclease and the first RNA molecule affects a double strand break in the mutant allele of the ELANE gene.
(FR)
L'invention concerne des procédés d'inactivation dans une cellule d'un allèle mutant du gène de l'élastase exprimée par le neutrophile (gène ELANE) ayant une mutation associée à une neutropénie congénitale grave (SCN) ou une neutropénie cyclique (CyN) et laquelle cellule est hétérozygote au niveau d'un ou plusieurs sites polymorphes choisis dans le groupe constitué par : rs10424470, rs4807932, rsl0414837, rs376107533, rs3761010, rs351108, rs3826946, rs 10413889, rs3761007, rs 10409474, rs3761005, rs351107, rs3761001, rs740021, rs781452480, rs371057361, rs570466264, rs1041904080, rs7250194, rs17216649, rs199720952, rs6510983, rs17223066, rs7255385, rs9749274, rslll361200, rsl12639467, rsl41213775, rs28591229, rs10469327, rs3834645, rsl683564, rs71335276 et rs8107095, le procédé comprenant l'introduction dans la cellule d'une composition comprenant une nucléase CRISPR ou une séquence codant pour la nucléase CRISPR; et une première molécule d'ARN comprenant une partie de séquence de guidage ayant 21 à 30 nucléotides, un complexe de la nucléase CRISPR et de la première molécule d'ARN affectant une cassure double brin dans l'allèle mutant du gène ELANE.
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