Ours is truly a translational Center, which means that our studies start with the patient, and we aim to develop therapies through a combination of laboratory – based and clinical research. The data that we gather from the patients can guide us to identifying the source of the disease and ultimately a way to measure the effects of an experimental treatment. Therefore, we carry out a number of non-invasive IRB-approved, human studies. The studies include standard clinical testing (such as visual acuity, visual field, light sensitivity testing), as well as high resolution imaging. Since vision relies on a partnership between the retina (where vision is initiated) and the brin (which processes the information sent by the retina), we carry out high resolution imaging on both structures. Adaptive Optics Scanning Laser Ophthalmoscopy (AO-SLO) is used to image the retina and a battery of structural and functional tests (including functional magnetic resonance imaging, fMRI) is used to study vision in the brain.
Under the direction of Dr. Manzar Ashtari, we are using non-invasive functional and structural state-of-the-art imaging protocols including functional magnetic resonance imaging (fMRI) high resolution structural, and diffusion tensor imaging. Using these protocols, we have demonstrated that subjects in the LCA-RPE65 gene therapy study gained dramatic improvement in their retinal function as assessed by cortical responses of the brain. It was heretofore unknown whether the circuitry connecting the retina and the brain could be reactivated after retinal gene therapy. We also used this approach to show that additional benefit could result after re-administration of gene therapy to the contralateral eye in subjects who had previously had received unilateral gene therapy. We have demonstrated a heretofore unappreciated plasticity of the central nervous system with respect to restoration of vision.
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