Improving the throughput of diagnosis and treatment of inherited diseases of the retina
Dr. Jason Comander was recently awarded a 5 year grant to support his work focused on efficiently identifying the genetic cause of inherited retinal degenerations.(IRDs), an important cause of vision loss.
By using cell-based assays to determine the functional significance of a large panel of DNA variants, the goal is to increase the throughput of diagnosing IRDs. The application of this knowledge could directly increase the number of inherited retinal disease patients eligible for gene-specific treatments such as gene augmentation therapy, potentially reducing disability from these serious diseases.