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.

IVR researchers recently published an article presenting the development and evaluation of a gene therapy vector for RPGR, the 3rd most common cause of all inherited retinal disease. This gene is a challenging therapeutic target, because gene therapy vectors containing wild-type RPGR sequence, which includes the highly repetitive low complexity region ORF15, are extremely unstable. They exhibit accumulations of genomic changes during the process of propagating the viral plasmid.

A team of IVR researchers published their successful correction of disease-causing mutations in patient-derived induced pluripotent stem cells (iPSCs). Enhanced S-cone syndrome (ESCS) is caused by recessive mutations in the photoreceptor cell transcription factor NR2E3. The loss of functional NR2E3 results in reduced populations of rod photoreceptors, due to a large increase in the population of photoreceptors tuned to identify short-wavelength (blue) light.

Monday night, at Sam’s Scramble for Sight in Grand Rapids Michigan, the Advisory Board of the Institute for Vision Research announced the creation of an annual “Heart of Our Vision Award” to recognize someone in our organization who has made an extraordinary contribution to the cure of heritable blindness. This year, Dr. Budd Tucker was chosen as the first recipient of the award and was presented with a Fender Telecaster guitar autographed by Bruce Springsteen to commemorate the event.