FMR1 Gene Modulation for Embryo Survival and Cancer Risk
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Solution Overview
Problem
Current medical knowledge lacks effective methods for evaluating ovarian function in young women and accurately assessing ovarian reserve in infertile patients, and there is a need for improved screening and treatment options for cancer risks associated with BRCA1/2 and FMR1 gene mutations.
Innovation Solution
A method involving the isolation and analysis of FMR1 and BRCA1/2 genes to measure CGG repeats, using assays to identify risks and administer FMR1 inhibitors or enhancers to modulate gene expression, thereby screening for cancer risks and improving embryo survival and quality during IVF.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If FMR1 gene analysis is performed to assess ovarian function and cancer risk, then diagnostic accuracy is improved, but test complexity and cost increase
Solution Approach 1:
The patent segments the FMR1 gene analysis into distinct components: CGG repeat length determination, methylation status assessment, and expression level measurement. This segmentation allows for systematic evaluation of different aspects of FMR1 function, improving diagnostic accuracy while enabling selective testing based on clinical needs
Solution Approach 2:
The patent develops a multi-functional diagnostic approach that uses FMR1 gene analysis to simultaneously assess ovarian function, predict ovarian aging, and evaluate cancer risk. This universal test platform serves multiple diagnostic purposes, reducing the need for separate specialized tests and thereby managing complexity through consolidation
2Object-affected harmful factors
If FMR1 inhibitors are administered to block gene expression in cancer prevention, then cancer risk is reduced, but potential side effects on normal physiological functions increase
Solution Approach 1:
The patent applies local quality by targeting FMR1 inhibition specifically in at-risk tissues and conditions. Rather than systemic inhibition, the approach focuses on blocking FMR1 expression where it contributes to cancer risk while preserving its normal physiological functions in healthy tissues, thereby reducing harmful effects while maintaining reliability of normal functions
Solution Approach 2:
The patent employs dynamic regulation of FMR1 expression through inducible inhibition systems. The inhibition can be activated or deactivated based on physiological conditions, allowing the system to adapt between preventing cancer and maintaining normal function. This dynamic control enables switching between protective and physiological states as needed
3Measurement precision
If comprehensive genetic screening is implemented for BRCA1/2 and FMR1 mutations, then cancer risk assessment is improved, but loss of time for interpretation and counseling increases
Solution Approach 1:
The patent implements preliminary action by establishing standardized interpretation protocols and decision support systems before clinical testing. Reference ranges, risk algorithms, and counseling frameworks are pre-developed and validated, allowing rapid interpretation of test results without requiring extensive ad-hoc analysis, thereby reducing time loss while maintaining accuracy
Data Source
AI summary
A method of treating a human female to increase embryo survival and embryo quality includes administering an FMR1 enhancer to a human embryo to cause an increase in expression of an FMR1 gene. The FMR1 enhancer increases the expression of FMR1 genes in the human embryo with at least one of two alleles with less than 26 triple CGG repeats.