Gene therapy for haploinsufficiency

A dysfunctional, haploid technology, applied in gene therapy, genetic engineering, virus/bacteriophage, etc., can solve the problems of reduced transcript stability, reduced gene transcription, and insufficient gene products to produce wild-type phenotypes

Pending Publication Date: 2019-12-24
RGT UNIV OF CALIFORNIA
View PDF31 Cites 0 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

In other diseases, genomic alterations reduce transcription of one or both copies of a gene or reduce transcript stability such that the gene product is insufficient to produce a wild-type phenotype

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • Gene therapy for haploinsufficiency
  • Gene therapy for haploinsufficiency
  • Gene therapy for haploinsufficiency

Examples

Experimental program
Comparison scheme
Effect test

Embodiment

[0241] Rescuing obesity from haploid insufficiency

[0242] I. Introduction

[0243] More than 300 genes are known to contribute to human disease due to haploinsufficiency (1, 2), resulting in a wide range of phenotypes including cancer, neurological disorders, developmental disorders, immune disorders, metabolic disorders, infertility, renal disease, limb deformities etc. (1). Large-scale exome sequencing analysis estimated a total of 3230 human genes that may be heterozygous for loss-of-function (LoF) intolerance (3). Gene therapy holds great promise for correcting haploid insufficiency disorders by inserting one or more functionally recombinant copies of a mutated gene. Currently, 2300 gene therapy clinical trials are underway, most of which use adeno-associated virus (AAV) to deliver recombinant genes (4). AAV is a preferred method of gene delivery because of its ability to deliver DNA without integration into the genome, without causing pathogenicity and providing long...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to view more

PUM

No PUM Login to view more

Abstract

Methods and compositions are provided for activating transcription in a mammalian cell.

Description

[0001] Cross References to Related Applications [0002] This application claims priority to U.S. Provisional Application No. 62 / 455,988, filed February 7, 2017, which is incorporated herein by reference for all purposes. [0003] Claims of Inventions Made Under Federally Sponsored Research and Development [0004] This invention was made with government support under grant number R01 DK090382 awarded by the National Institutes of Health. The government has certain rights in this invention. [0005] Submit a reference to a sequence listing [0006] This application includes a sequence listing in a text file named "081906-224410PC-1072775_SequenceListing.txt" generated on February 6, 2018 and contains 107 kb. The material contained in this text file is incorporated by reference in its entirety for all purposes. [0007] field of invention [0008] The present disclosure generally relates to methods and compositions for activating transcription in mammalian cells. Backgroun...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to view more

Application Information

Patent Timeline
no application Login to view more
Patent Type & Authority Applications(China)
IPC IPC(8): A61K38/00A61K38/17A61K47/64A61K48/00A61P3/04A61P25/00A61P25/08A61P25/28A61P27/02A61P13/12
CPCA61K38/17C12N9/22A01K2217/077A01K2227/105A01K2267/0362C12N2750/14143C12N15/113C12N2310/20A61P13/12A61P25/00A61P25/08A61P25/28A61P27/02A61P3/04A61P43/00A01K67/0276A61K48/0016A61K48/0066C12N15/86C12N15/102
Inventor N·阿黑度威N·玛莎鲁
Owner RGT UNIV OF CALIFORNIA
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Try Eureka
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap