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Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System
Published on: February 4, 2021
Modifiers and their impact on inherited retinal diseases: a review
Laura M Ford1, Simon M Petersen-Jones2
1Genetics and Genome Sciences, Michigan State University, East Lansing, Michigan, USA.
Ophthalmic Genetics
|January 9, 2025
Summary
Genetic modifiers significantly influence inherited retinal diseases, impacting their varied symptoms. Identifying these modifiers is key to understanding disease mechanisms and developing new therapies.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Phenotypic variability in inherited conditions arises from environmental, epigenetic, and genetic factors.
- Genetic factors include modifying loci that alter the expression of primary disease-causing variants.
- Modifiers influence key disease characteristics like penetrance, dominance, expressivity, and pleiotropy.
Purpose of the Study:
- To review the scientific literature and emphasize the role of genetic modifiers in inherited retinal diseases.
- To highlight how modifiers contribute to the diverse clinical presentations of these conditions.
Main Methods:
- Literature review focusing on inherited retinal diseases and genetic modifiers.
- Analysis of studies identifying candidate modifiers through Genome-Wide Association Studies (GWAS), family studies, population studies, and variant calling.
Main Results:
- Modifiers have been identified in various inherited retinal diseases, such as retinitis pigmentosa and Stargardt disease.
- Despite challenges in identification, candidate modifiers are being discovered using advanced genetic methodologies.
- These modifiers are associated with significant phenotypic variation in inherited retinal diseases.
Conclusions:
- Genetic modifiers are crucial for understanding the complex nature of inherited retinal diseases.
- Identifying modifiers offers promising avenues for elucidating disease pathways.
- Modifiers represent potential therapeutic targets for treating inherited retinal diseases.
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