Title: When the Patient Becomes the Model: iPSC-RPE for Disease Discovery and Therapeutic Development
Abstract: Building on inherited retinal diseases caused by ion-channel defects, we developed a human-centered experimental strategy using induced pluripotent stem cells (iPSCs) from affected individuals and unaffected family members to generate genetically contextualized, disease-relevant retinal pigment epithelium (RPE). These paired models enable us to connect a patient’s genotype directly to cellular phenotype and molecular mechanisms. This method also provides quantitative endpoints for therapy development and can evaluate gene therapy, genome editing, and suppressor-tRNA treatments, assessing their efficacy and safety in human cells. Our studies demonstrate how patient-derived stem cells serve as New Approach Methodologies (NAMs), potentially reducing or replacing animal testing. Combining patient genetics, stem cell biology, physiology, and genomics leads to more predictive, personalized preclinical development.
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