SCN9A Gene Editing With Guide RNA for Precise Pain Treatment

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Solution Overview

Problem

Current genome engineering technologies for altering the SCN9A gene, which is involved in chronic pain, lack precision and reproducibility, and there is a need for safe and effective treatments for SCN9A-related disorders.

Innovation Solution

A single-molecule guide RNA and S. pyogenes Cas9 endonuclease are introduced into cells to create targeted single-strand or double-strand breaks in the SCN9A gene, leading to permanent insertions, deletions, or mutations, thereby reducing or eliminating SCN9A gene expression.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Manufacturing precision

If early random insertion technologies are used to alter the SCN9A gene, then gene modification can be achieved, but the precision of insertion location is poor and unwanted effects occur

Engineering Contradiction:
Improveinsertion location precisionVSAvoidunwanted effects from random insertion
Core Design Contradiction:
Manufacturing precisionVSObject-affected harmful factors

Solution Approach 1:

The patent introduces guide RNA as an intermediary molecule that mediates between the nuclease enzyme and the target SCN9A gene sequence. The guide RNA contains a spacer sequence complementary to the target gene, enabling precise location identification and binding, thereby resolving the contradiction between achieving gene modification and avoiding random insertion harmful effects

Inventive Principle:
Principle #24Intermediary (Mediator)

Solution Approach 2:

The patent applies local quality by designing the guide RNA with a specific spacer sequence (SEQ ID NO: 47439) that is complementary only to the target SCN9A gene sequence. This localized specificity ensures the nuclease enzyme acts only at the precise target location, eliminating random insertion harmful effects while maintaining manufacturing precision

Inventive Principle:
Principle #3Local quality

2Manufacturing precision

If zinc finger nucleases or TALENs are used to modify the SCN9A gene, then insertion precision is improved, but reproducibility and ease of operation remain limited

Engineering Contradiction:
Improvegene modification precisionVSAvoidreproducibility of gene editing
Core Design Contradiction:
Manufacturing precisionVSEase of operation

Solution Approach 1:

The patent employs the CRISPR/Cas9 system where a single Cas9 nuclease enzyme can be paired with different guide RNA molecules to target various sequences. This universal platform maintains high precision while improving ease of operation and reproducibility, as changing the target sequence only requires changing the guide RNA spacer sequence rather than redesigning the entire nuclease protein

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

Solution Approach 2:

The patent changes the parameter of target recognition from protein-DNA interaction (in ZFNs and TALENs) to RNA-DNA base pairing. This parameter change allows for easier design and higher reproducibility, as RNA base pairing rules are simpler and more predictable than protein-DNA recognition, while maintaining high precision through complementary base pairing

Inventive Principle:
Principle #35Parameter changes

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 SCN9A gene, potentially curing SCN9A-related disorders by reducing or eliminating gene function.

Implementation Method 1

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 SCN9A gene

Methodology Applied
Scientific EffectEndonuclease activity: Enzyme

Data Source

PatentEP3481857B1Materials and methods for treatment of pain related disorders
Publication Date: 2026.02.11 VERTEX PHARMACEUTICALS INC
  • EP3481857B1 patent drawingFigure 1A~1B
  • EP3481857B1 patent drawingFigure 2A
  • EP3481857B1 patent drawingFigure 2B

AI summary

The present application provides materials and methods for treating a patient with one or more conditions associated with SCN9A whether ex vivo or in vivo. In addition, the present application provides materials and methods for editing and/or modulating the expression of SCN9A gene in a cell by genome editing.