HTRA1 Gene Variant Detection for Wet AMD Risk Prediction
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Solution Overview
Problem
Current diagnostic methods cannot accurately predict the risk of age-related macular degeneration, and existing treatments for the condition are limited in their ability to prevent or reverse vision loss, especially in the wet form of the disease.
Innovation Solution
Identification of protective and risk variants of the HTRA1 gene, such as C>T (rs2672598) and G>C/T (rs2293870), to determine an individual's risk of developing age-related macular degeneration, and methods to reduce the expression or biological activity of the HTRA1 gene to treat or slow the progression of the disease.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current diagnostic methods are used, then vision loss can be detected after it occurs, but the risk of age-related macular degeneration cannot be accurately predicted before disease development
Solution Approach 1:
The patent applies preliminary action by identifying and testing for protective and risk variants of the HTRA1 gene before the development of age-related macular degeneration. This allows individuals to be identified as being at risk prior to vision loss occurring, enabling early intervention and monitoring strategies that could prevent or delay disease progression.
2Reliability
If existing treatments for age-related macular degeneration are used, then some vision loss can be managed, but the treatments are limited in their ability to prevent or reverse vision loss, especially in the wet form
Solution Approach 1:
The patent applies parameter changes by targeting the HTRA1 gene expression levels as a modifiable parameter. By reducing HTRA1 expression or biological activity through therapeutic agents, the patent aims to change the disease progression trajectory, potentially preventing vision loss in the wet form of AMD where current treatments are least effective.
3Duration of action of moving object
If the wet form of age-related macular degeneration is treated with current therapies, then some vision loss can be slowed, but the treatments cannot reverse the condition and are difficult to apply
Solution Approach 1:
The patent applies preliminary action by identifying individuals at risk through genetic testing before vision loss occurs in the wet form. This allows for early initiation of treatments that target HTRA1 gene expression, potentially preventing the progression to severe vision loss and making treatment application more effective when initiated early rather than after established disease.
Data Source
AI summary
The invention provides methods and compositions for determining whether a subject is at risk of developing age-related macular degeneration, for example, the wet or neovascular form of age-related macular degeneration. The method involves determining whether the subject has a protective variant and/or a risk variant at a polymorphic site in the HTRA1 gene. In addition, the invention provides a method of treating or slowing the progression of age-related macular degeneration by reducing the expression of the HTRA1 gene, or reducing the biological activity of the HTRA1 gene product.