SCN10A Gene Editing With CRISPR-Cas9 for Reproducible Pain Treatment

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Solution Overview

Problem

Current genome engineering technologies for altering the SCN10A gene are limited by random insertion and lack of reproducibility, posing challenges in developing safe and effective treatments for related disorders.

Innovation Solution

A single-molecule guide RNA (sgRNA) and S. pyogenes Cas9 endonuclease are introduced into cells to create precise single-strand or double-strand breaks in the SCN10A gene, enabling permanent insertions, deletions, or mutations to reduce or eliminate SCN10A gene expression.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Manufacturing precision

If random insertion technologies are used to alter the SCN10A gene, then gene modification can be achieved, but the precision and reproducibility of the modification are poor

Engineering Contradiction:
Improvegene modification precisionVSAvoidmodification reproducibility
Core Design Contradiction:
Manufacturing precisionVSReliability

Solution Approach 1:

The guide RNA is divided into distinct functional domains (spacer sequence, repeat sequence, and optional extension sequences) that can be independently optimized. This segmentation allows precise targeting of the SCN10A gene while maintaining reproducibility across different cells and treatments.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The CRISPR-Cas9 system acts as an intermediary between the guide RNA and the SCN10A gene. The Cas9 endonuclease mediates the precise cutting of the target gene based on guide RNA direction, enabling accurate and reproducible gene modification without random insertion.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Productivity

If multiple treatments are required to achieve gene editing, then the treatment complexity increases, but a single treatment is desired for permanent cure

Engineering Contradiction:
Improvetreatment efficiencyVSAvoidtreatment protocol complexity
Core Design Contradiction:
ProductivityVSDevice complexity

Solution Approach 1:

The guide RNA is designed with extended sequences that facilitate stable complex formation with Cas9 before target engagement. This preliminary optimization ensures efficient gene editing in a single treatment, eliminating the need for multiple sequential therapies.

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The CRISPR-Cas9 system with optimized guide RNA serves multiple functions simultaneously: it guides Cas9 to the target site, facilitates DNA cutting, and enables permanent gene modification. This multi-functionality allows a single treatment to achieve complete and lasting therapeutic effect.

Inventive Principle:
Principle #6Universality (Multi-functionality)

3Duration of action of stationary object

If genome engineering is used to permanently alter the SCN10A gene, then the therapeutic effect can be lasting, but safety concerns arise from potential off-target effects

Engineering Contradiction:
Improvetherapeutic durationVSAvoidoff-target effects
Core Design Contradiction:
Duration of action of stationary objectVSObject-affected harmful factors

Solution Approach 1:

The guide RNA is designed with a spacer sequence that is highly specific to the SCN10A gene target site. This localized precision ensures that Cas9 cuts only at the intended location, minimizing off-target effects while maintaining permanent therapeutic benefit.

Inventive Principle:
Principle #3Local quality

Solution Approach 2:

The extended sequences in the guide RNA structure provide feedback mechanisms that enhance the stability and specificity of the Cas9-guide RNA complex. This feedback ensures accurate target recognition and reduces the likelihood of off-target cutting, enabling safe permanent gene modification.

Inventive Principle:
Principle #23Feedback

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 allows for a single treatment to permanently alter the SCN10A gene, potentially curing related disorders by reducing or eliminating gene function, thereby addressing the limitations of existing technologies.

Implementation Method 1

one or more S. pyogenes Cas9 endonuclease or one or more polynucleotide encoding the one or more S. pyogenes Cas9 endonuclease; to effect one or more single-strand breaks (SSBs) or double-strand breaks (DSBs) within or near the SCN10A gene

Methodology Applied
Scientific EffectEndonuclease cleavage: Enzyme

Data Source

PatentEP3481856B1Materials and methods for treatment of pain related disorders
Publication Date: 2025.09.03 VERTEX PHARMACEUTICALS INC
  • EP3481856B1 patent drawingFigure 1A~1B
  • EP3481856B1 patent drawingFigure 2A
  • EP3481856B1 patent drawingFigure 2B

AI summary

The present application provides materials and methods for treating a patient with one or more conditions associated with SCN10A whether ex vivo or in vivo. In addition, the present application provides materials and methods for editing and/or modulating the expression of SCN10A gene in a cell by genome editing.