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Methods for the treatment of corneal dystrophies

A technology for malnutrition and cornea, applied in biochemical equipment and methods, tissue culture, pharmaceutical formulations, etc., can solve problems such as limited use of surgical operations, shortage of availability, etc.

Pending Publication Date: 2018-10-23
AVELLINO LAB USA
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

However, the shortage of donor corneal tissue availability limits the use of surgical procedures
Additionally, however, disease recurrence in donor grafts may occur after keratoplasty

Method used

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  • Methods for the treatment of corneal dystrophies
  • Methods for the treatment of corneal dystrophies
  • Methods for the treatment of corneal dystrophies

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Embodiment

[0124] The following examples are presented to illustrate various embodiments of the invention. It should be understood that such examples do not represent, and are not intended to represent, exclusive embodiments; such examples are provided merely to illustrate the practice of the invention.

[0125] Mutation Analysis: Analysis of mutations associated with various corneal dystrophies to determine which are complete missense mutations or in-frame insertions / deletions. This analysis indicated that for most K12 and TGFBI diseases, nonsense or frameshift insertion / deletion mutations were not associated with disease. Furthermore, analysis of the exome variant database confirmed that any naturally occurring inadvertent, frameshift insertion / deletion, or splice-site mutations reported to be found in these genes were not associated with disease in these individuals.

[0126] Mutation analysis revealed the following corneal dystrophy genes to be suitable for targeted nuclease gene th...

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Abstract

Methods and compositions for the treatment of a corneal dystrophy in a subject in need thereof are provided. In one aspect, the method includes the step of obtaining a plurality of stem cells comprising a nucleic acid mutation in a corneal dystrophy target nucleic acid from the subject and manipulating the nucleic acid mutation in one or more stem cells of the plurality of stem cells to correct the nucleic acid mutation, thereby forming one or more manipulated stem cells. The manipulated stem cells are isolated and then transplanted into the subject. In some embodiments, the nucleic acid mutation is manipulated using CRISPR system.

Description

field of invention [0001] The present disclosure generally relates to methods for treating corneal dystrophies. In particular, the present disclosure relates to methods for treating corneal dystrophies associated with genetic mutations. Background of the invention [0002] Corneal dystrophies are a group of inherited disorders of the outer layer of the eye (cornea). For example, corneal dystrophy can be characterized by bilateral abnormal deposits of material in the cornea, the transparent front part of the eye. Corneal dystrophies include, but are not limited to, the following four IC3D categories of corneal dystrophies (see, eg, Weiss et al., Cornea 34(2):117-59 (2015)): epithelial and subepithelial dystrophies, epithelial-stromal TGFβI dystrophy dystrophy, stromal dystrophy, and endothelial dystrophy. Corneal dystrophy can be caused by proteins located in transforming growth factor, beta-inducible (TGFβI), keratin 3 (KRT3), keratin 12 (KRT12), GSN, or UbiA prenyltransf...

Claims

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Application Information

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IPC IPC(8): C12N9/22C12N15/63C12N15/85C12Q1/6883
CPCC12Q1/68C12N9/22C12N15/85A61K35/30C12Q1/6883C12N2510/00C12N2533/92C12Q2600/156C12N5/0621A61P27/02A61L27/3604A61L27/3666A61L27/3695A61L27/54A61L2430/16C12N2310/20C12N15/113
Inventor T.莫尔A.内斯比特G.李S-Y.乔L.德迪奥尼西奥
Owner AVELLINO LAB USA
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