IVR researchers recently published an article exploring the utility of patient-derived induced pluripotent stem cells (iPSCs) to model to validate and expand the catalog of disease-causing variations. Integrating iPSC-based modeling into the process of molecular diagnosis is expected to enable a major influx of variant discovery and expanded treatment of inherited retinal disease. The full publication can be found here.
Expanding the catalog of disease-causing variations using iPSC-based modeling
October 29th, 2020