Gene-based therapeutics for ocular disease

Recent advances in gene therapy have allowed clinicians and scientists to say “when”, instead of “if” there will be interventions for previously untreatable disease. Ophthalmology as a speciality is at the forefront of translational research for gene-based applications for many reasons. First, the eye is an accessible organ for study and modern imaging makes it possible to follow changes in ocular tissue in vivo at the cellular level. Second, the eye boasts a relatively immune-privileged space, bypassing one of the major hurdles of attenuating immune response to viral vectors harboring gene products. Lastly, in both animal models and clinical trials, each individual subject can potentially be their own internal control depending on the study design as there are two eyes. So not surprisingly, one of the first ever gene therapies to be approved in both the USA and abroad, voretigene neparvovec-rzyl was for an inherited retinal disease. Numerous other gene therapies are in the pipeline for ocular disease, including promising gene-editing platforms that utilize CRISPR technology. The focus of our topic will be to provide an update on the genetics of ocular disease and gene-based therapies in the field of ophthalmology.

We welcome studies that investigate and discuss the following themes:

a) Outcomes of ocular gene therapy surgery amongst approved treatments and those currently in clinical trials
b) Natural disease history studies for particular inherited retinal dystrophies with current or upcoming gene therapy trials
c) Translational work investigating the pathogenesis of inherited ocular disease
d) Population and epidemiological studies assessing the genetic contributions for acquired ocular conditions (i.e, glaucoma, age-related macular degeneration)
e) Applications of CRISPR to ocular disease