Brittany Carr

Summary:

Inherited retinal disorders (IRDs) can result in permanent blindness in children and young adults. They are rare, heterogeneous disorders caused by genetic mutations that alter the structure and function of the retina during development. IRDs cannot be prevented, most have no treatment or cure, and all are present from birth due to the passing on of defective genes from parent to child. When a clinician sees a patient with an IRD, they have relatively little to offer; current genetic screening technology can identify the pathogenic gene and/or mutation, but information about disease processes associated with the identified disorder is scarce. The Carr lab is addressing this paucity of knowledge by using a unique animal model and genetic modification technology to generate and characterize a number of these disorders, with the goal of identifying and developing new treatments or cures for these blindness-causing disorders.