CRISPR Guide RNA for BEST1 Allele Discrimination

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Solution Overview

Problem

Current methods are inadequate for effectively distinguishing and addressing dominant-mutated alleles causing genetic disorders like Best Vitelliform Macular Dystrophy, particularly in terms of knocking out the expression of disease-causing alleles while preserving functional alleles.

Innovation Solution

A method utilizing CRISPR nuclease and RNA molecules with guide sequences targeting specific SNPs in the BEST1 gene to knock out the expression of mutated alleles, allowing for the expression of functional proteins, thereby treating Best Vitelliform Macular Dystrophy.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If CRISPR nuclease and guide RNA are used to target mutated alleles, then the specificity of allele discrimination is improved, but the risk of off-target effects and delivery complexity increases

Engineering Contradiction:
Improveallele discrimination specificityVSAvoiddelivery system complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The CRISPR system is divided into separate components (guide RNA and CRISPR nuclease) that can be independently optimized and delivered. The guide RNA contains a guide sequence portion (17-20 nucleotides) that specifically targets the mutated allele, while the CRISPR nuclease performs the cutting function. This segmentation allows for precise targeting while managing delivery complexity through separate optimization of each component.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The guide RNA acts as an intermediary between the CRISPR nuclease and the target DNA sequence. It contains the guide sequence portion that recognizes and binds to the mutated allele through base pairing, directing the CRISPR nuclease to the specific target site. This intermediary mechanism enables high specificity in allele discrimination while allowing the nuclease to be delivered as a separate entity.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Reliability

If CRISPR nuclease is delivered to knock out mutated alleles, then the therapeutic effectiveness is improved, but the difficulty of in vivo delivery increases

Engineering Contradiction:
Improvetherapeutic effectivenessVSAvoidin vivo delivery feasibility
Core Design Contradiction:
ReliabilityVSEase of manufacture

Solution Approach 1:

The therapeutic system is segmented into deliverable components: guide RNA molecules (17-20 nucleotides) and CRISPR nuclease. This segmentation enables each component to be optimized for delivery through appropriate vectors or methods, improving the feasibility of in vivo delivery while maintaining therapeutic effectiveness through precise targeting of mutated alleles.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The guide RNA is designed with specific parameter optimizations (17-20 nucleotide guide sequence portion) that balance binding affinity and specificity. This parameter optimization ensures effective targeting of mutated alleles for knockout while facilitating delivery through appropriate vectors, thereby improving both therapeutic effectiveness and delivery feasibility.

Inventive Principle:
Principle #35Parameter changes

3Measurement precision

If guide sequences are designed to target specific SNPs, then the precision of mutant allele identification is improved, but the guide sequence design complexity increases

Engineering Contradiction:
ImproveSNP targeting precisionVSAvoidguide sequence design complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The guide RNA contains a guide sequence portion (17-20 nucleotides) that is specifically designed to match the mutated allele sequence at the target SNP location. This local quality approach ensures high precision in SNP targeting by concentrating the specificity requirements in the guide sequence portion, while the rest of the RNA structure can be standardized for delivery and function.

Inventive Principle:
Principle #3Local quality

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 the specific inactivation of dominant-mutated alleles, potentially ameliorating or preventing the disease phenotype by allowing the expression of functional proteins, thus offering a targeted therapeutic strategy for genetic disorders.

Implementation Method 1

A method utilizing CRISPR nuclease and RNA molecules with guide sequences targeting specific SNPs in the BEST1 gene to knock out the expression of mutated alleles

Methodology Applied
Scientific EffectCRISPR RNA-guided DNA targeting and cleavage:

Implementation Method 2

RNA molecules with guide sequences targeting specific SNPs in the BEST1 gene

Methodology Applied
Scientific EffectNucleic acid base pairing:

Data Source

PatentUS20240132881A1Differential knockout of an allele of a heterozygous bestrophin 1 gene
Publication Date: 2024.04.25 EMENDOBIO INC

AI summary

RNA molecules comprising a guide sequence portion having 17-20 nucleotides in the sequence of 17-20 contiguous nucleotides set forth in any one of SEQ ID NOs: 1-3010 and compositions, methods, and uses thereof.