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WHDL - 00017638
The ELOVL4 enzyme is required to generate very long-chain fatty acids with structural and functional importance in the retina. Genetic defects in ELOVL4 are responsible for Stargardt’s disease, leading to a loss of central vision. This paper focuses on creating an in-vitro model of Stargardt's disease that replicates a key genetic defect observed in patients to test dietary supplements or other treatments that can restore normal long-chain fatty acids in the retina. We are using CRISPR to create a patient-relevant 5 base pair deletion on ELOVL4 in induced pluripotent stem cells (IPSCs) that can be grown into retinal organoids in culture. Bioinformatics tools were utilized to generate potential CRISPR guides and repair oligonucleotides that are predicted to effectively cut and repair the gene with the 5bp mutation observed in patients.
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