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Student conference

Exploring Emerging Genotypic Diversity in C1QTNF5-Related Retinal Degeneration

By Maria-Ariadna Ghiuta

EMS300 Student Conference 2026

Slide 1: Stanton Lab. A full description follows.

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Summary

The presentation investigates the genotypic diversity in C1QTNF5-related retinal degeneration, focusing on inherited and late-onset retinal degeneration. It outlines the methodology for in silico variant identification and in vitro validation of C1QTNF5 variants of uncertain significance (VUS). Key findings indicate that these variants disrupt protein stability and assembly, supporting their pathogenic role. Recommendations for future work include increasing sample replicates and refining methods to enhance genomic diagnosis accuracy for affected patients.

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