APOCIII Gene Editing via CRISPR Cas9 Guide RNA

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Solution Overview

Problem

Current genome engineering techniques for addressing Apolipoprotein C3 (APOCIII)-related disorders lack safety and effectiveness, with random gene insertion methods causing severe unwanted effects and limited reproducibility, and existing treatments for Dyslipidemias are challenging, especially in children, due to difficulty in implementing dietary changes and ineffectiveness of lipid-lowering therapies.

Innovation Solution

The use of genome editing tools, such as CRISPR/Cas9 and Cpfl systems, to introduce specific single-strand or double-strand breaks in the APOCIII gene, allowing for permanent insertions, deletions, or mutations, reducing or eliminating APOCIII gene products, through ex vivo and in vivo methods, including editing hepatocytes or induced pluripotent stem cells, to treat APOCIII-related disorders.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If random gene insertion methods are used to address APOCIII-related disorders, then gene modification can be achieved, but severe unwanted effects occur and reproducibility is limited

Engineering Contradiction:
Improvetreatment effectivenessVSAvoidunwanted effects from random insertion
Core Design Contradiction:
ReliabilityVSObject-affected harmful factors

Solution Approach 1:

The patent uses guide RNA as an intermediary molecule that directs the Cas9 nuclease to the specific APOCIII gene target site. This intermediary ensures precise localization of the editing tool, preventing random genomic insertions while maintaining the ability to modify the target gene effectively.

Inventive Principle:
Principle #24Intermediary (Mediator)

Solution Approach 2:

The patent replaces the mechanical/random insertion process with a programmable molecular system. The guide RNA sequence can be designed to match any target DNA sequence, allowing precise targeting through molecular recognition rather than random physical insertion, thereby eliminating unwanted off-target effects.

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

2Ease of operation

If existing lipid-lowering therapies and dietary changes are implemented for Dyslipidemias, then treatment can be provided, but these approaches are ineffective and difficult to implement, especially in children

Engineering Contradiction:
Improvetreatment implementationVSAvoidtreatment effectiveness
Core Design Contradiction:
Ease of operationVSReliability

Solution Approach 1:

The patent extracts and eliminates the root cause of the disease by knocking out or disabling the APOCIII gene through precise genome editing. This removes the need for ongoing dietary management and lipid-lowering therapies, providing a curative rather than management-based solution that is particularly advantageous for pediatric patients.

Inventive Principle:
Principle #2Taking out (Extraction)

Solution Approach 2:

The patent performs preliminary genome editing on hepatocytes or induced pluripotent stem cells before transplantation or in vivo delivery. This preliminary modification ensures that the therapeutic effect is established in advance, eliminating the need for continuous treatment adherence and providing long-lasting or permanent therapeutic benefit.

Inventive Principle:
Principle #10Preliminary action

Applied Scientific Principles

This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.

Function Achieved in This Case

This approach enables a single treatment to completely remedy or halt the progression of APOCIII-related diseases by precisely modifying the genome, reducing the expression or function of APOCIII gene products, potentially offering a more effective and safer therapy for Dyslipidemias and other associated conditions.

Implementation Method 1

introducing into the cell one or more deoxyribonucleic acid (DNA) endonucleases to effect one or more single-strand breaks (SSBs) or double-strand breaks (DSBs) within or near the APOCIII gene

Methodology Applied
Scientific EffectDouble-strand break:

Data Source

PatentEP3478841A1Materials and methods for treatment of apolipoprotein c3 (apociii)-related disorders
Publication Date: 2019.05.08 CRISPR THERAPEUTICS AG

AI summary

The present application provides materials and methods for treating a patient with one or more conditions associated with APOCIII whether ex vivo or in vivo. In addition, the present application provides materials and methods for editing and/or modulating the expression of APOCIII gene in a cell by genome editing.