Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology
With mutations in more than 200 different genes identified, inherited retinal diseases (IRDs) represent one of the most heterogeneous disorders in humans, both genetically and clinically (https://sph.uth.edu/retnet/). Typically, IRDs are progressive in nature, and often result in patients becoming legally blind, although the age at which this occurs can vary enormously, from early childhood to late adulthood. Long considered incurable diseases, technological innovation has tremendously boosted the development of therapeutic strategies for IRD over the last decade, especially in the field of gene therapy. Pioneer successes have been achieved by delivering recombinant adeno-associated viruses (AAVs) harboring a wild-type copy of RPE65 cDNA to the retina of patients with mutations in this gene (1-4).