FMR1 Gene Testing for Premature Ovarian Aging Detection

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Solution Overview

Problem

Current methods fail to detect imminent premature ovarian aging and infertility in human females who have not experienced infertility and are not otherwise indicated to have premature ovarian aging, leading to late diagnosis and limited treatment success.

Innovation Solution

Performing an FMR1 gene test to assess the risk of premature ovarian aging, followed by a regimen of repeated hormone tests at short intervals to determine the imminence of ovarian aging and provide targeted treatment and fertility preservation options.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If current testing methods are used, then infertility is detected only after symptoms appear, but diagnosis is delayed and treatment success is limited

Engineering Contradiction:

Improvedetection timing accuracyVSAvoiddiagnosis delay

Core Design Contradiction:

Measurement precisionVSLoss of time

Solution Approach 1:

The patent applies preliminary action by performing FMR1 gene testing and repeated hormone tests at short intervals on females before they experience infertility symptoms. This early detection approach identifies at-risk individuals in advance, allowing treatment to be initiated before ovarian aging becomes irreversible, thereby resolving the contradiction between detection accuracy and diagnosis timing.

Inventive Principle:

Principle #10Preliminary action

2Measurement precision

If FMR1 gene testing and repeated hormone tests are performed, then early detection of premature ovarian aging is enabled, but testing complexity and cost increase

Engineering Contradiction:

Improveearly detection accuracyVSAvoidtesting regimen complexity

Core Design Contradiction:

Measurement precisionVSDevice complexity

Solution Approach 1:

The patent applies segmentation by dividing the testing process into distinct stages: initial FMR1 gene testing to identify at-risk females, followed by repeated hormone tests at specific short intervals. This segmented approach allows for systematic early detection while managing complexity through structured protocol implementation.

Inventive Principle:

Principle #1Segmentation

Solution Approach 2:

The patent applies universality by using the FMR1 gene test as a universal screening tool that identifies multiple risk categories, and by employing hormone tests that serve multiple functions in monitoring ovarian aging progression. This multi-functional approach enables comprehensive early detection without requiring entirely separate testing systems for each function.

Inventive Principle:

Principle #6Universality (Multi-functionality)

3Reliability

If treatment is delayed until infertility is experienced, then treatment costs are reduced, but treatment effectiveness decreases

Engineering Contradiction:

Improvetreatment effectivenessVSAvoidtreatment initiation delay

Core Design Contradiction:

ReliabilityVSLoss of time

Solution Approach 1:

The patent applies preliminary action by identifying females at risk for premature ovarian aging through FMR1 gene testing before they experience infertility. This allows treatment to be initiated in advance when ovarian function is still preservable, significantly improving treatment effectiveness compared to waiting until infertility symptoms appear.

Inventive Principle:

Principle #10Preliminary action

4Quantity of substance

If no early detection method is used, then testing costs are minimized, but fertility preservation opportunities are lost

Engineering Contradiction:

Improvefertility preservation successVSAvoidintervention timing

Core Design Contradiction:

Quantity of substanceVSLoss of time

Solution Approach 1:

The patent applies preliminary action by implementing FMR1 gene testing and repeated hormone monitoring to detect premature ovarian aging before fertility is permanently lost. This early intervention approach preserves fertility opportunities by enabling treatment during the window when ovarian function can still be maintained or restored.

Inventive Principle:

Principle #10Preliminary action

Data Source

PatentUS8951724B2Detection of infertility risk and premature ovarian aging

Publication Date: 2015.02.10 THE FOUND FOR REPRODUCTIVE MEDICINE INC

AI summary

Method of early detection of risk of infertility and ovarian aging in and treatment of a human female who has not experienced infertility and is not otherwise indicated to have premature ovarian aging. A number of CGG repeats on each allele of the isolated FMR1 gene is measured by using an assay, and a testing regimen is performed only when the determined number of CGG repeats on one of the FMR1 gene alleles is less than 26. The testing regimen includes periodically measuring serum level of a hormone related to fertility, such as Anti-Müllerian Hormone, Follicle Stimulating Hormone and/or estradiol over a period of about three to eight years and, after each measurement, determining if the measured serum level is less than a set confidence interval for a human female of the same age of the female. If so, the human female is treated for premature ovarian aging.