KLHDC7B Variant Detection for Genotype-Adjusted Hearing Loss Treatment

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Solution Overview

Problem

Current treatments for hearing loss, such as hearing aids, have limitations and there is a lack of effective therapies to regenerate damaged hair cells in the inner ear, leading to communication difficulties in a large percentage of the population, with few cases being cured.

Innovation Solution

Identifying subjects at risk for hearing loss through the presence of KLHDC7B missense variant nucleic acid molecules encoding predicted loss-of-function polypeptides, and administering therapeutic agents in adjusted dosages to treat or inhibit hearing loss based on genotype.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If hearing aids are used to treat hearing loss, then communication difficulties can be partially addressed, but they cannot improve speech intelligibility and have limited effectiveness

Engineering Contradiction:
Improveeffectiveness of hearing loss treatmentVSAvoidspeech intelligibility improvement
Core Design Contradiction:
ReliabilityVSEase of operation

Solution Approach 1:

The patent applies preliminary action by identifying genetic variants (KLHDC7B missense variants) that predispose individuals to hearing loss before actual damage occurs. By detecting these variants early, the system enables preventive interventions and personalized treatment strategies before hearing loss becomes severe, thereby improving treatment effectiveness and speech intelligibility outcomes.

Inventive Principle:
Principle #10Preliminary action

2Ease of operation

If uniform therapeutic dosages are administered to all subjects, then treatment simplicity is maintained, but treatment effectiveness is reduced for subjects with specific genetic variants

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

Solution Approach 1:

The patent applies local quality by tailoring therapeutic dosages to the specific genetic characteristics of each subject. Subjects with KLHDC7B missense variants receive adjusted dosages compared to those without the variants. This personalized approach optimizes treatment effectiveness for each genetic subgroup while maintaining a standardized treatment protocol framework.

Inventive Principle:
Principle #3Local quality

Solution Approach 2:

The patent applies parameter changes by modifying the dosage parameter of therapeutic agents based on the presence or absence of specific KLHDC7B genetic variants. This allows the treatment protocol to adapt its key parameter (dosage) to match the genetic profile of the subject, thereby maximizing treatment effectiveness across different genetic populations.

Inventive Principle:
Principle #35Parameter changes

3Reliability

If genetic testing for KLHDC7B variants is performed, then subjects at increased risk can be identified, but additional testing complexity and cost are introduced

Engineering Contradiction:
Improveaccuracy of risk identificationVSAvoidtesting complexity
Core Design Contradiction:
ReliabilityVSDevice complexity

Solution Approach 1:

The patent applies the taking out principle by extracting and focusing specifically on the KLHDC7B gene and its missense variants for genetic testing. Rather than performing comprehensive genomic analysis, the system targets only the relevant genetic markers associated with hearing loss risk. This extraction approach maintains high accuracy in risk identification while minimizing testing complexity and cost.

Inventive Principle:
Principle #2Taking out (Extraction)

Data Source

PatentUS20250250631A1Kelch Domain Containing 7B (KLHDC7B) Variants And Uses Thereof
Publication Date: 2025.08.07 REGENERON PHARMACEUTICALS INC
  • US20250250631A1 patent drawing
  • US20250250631A1 patent drawing
  • US20250250631A1 patent drawing

AI summary

The present disclosure provides methods of treating subjects having hearing loss, methods of identifying subjects having an increased risk of developing hearing loss, and methods of detecting Kelch Domain Containing 7B (KLHDC7B) variant nucleic acid molecules and variant polypeptides.