Résumé
Inherited retinal dystrophies (IRDs) are characterized by a progressive loss of visual acuity that leads to legal blindness. We use retinal cell models generated via patient-specific induced pluripotent stem cells (iPSc) to study the pathophysiology of, and develop novel therapies for, IRDs. We showed the potential of such a model to provide proof-of-concept studies for gene replacement of autosomal recessive IRDs. We are in clinical translation of this approach for one IRD via the startup Horama, which we created to bridge the gap between bench and bedside. Although gene replacement is promising for autosomal recessive disorders, it has its limitation in the case of IRDs due to large causative genes or due to diseases with an autosomal dominant inheritance, where the defective protein can exert a dominant-negative effect. In such cases, we are developing alternative strategies such as genome editing via the CRISPR/Cas9 system.