Research

Gene therapy is an excellent means of genetic improvement through the replacement of the diseased gene, site-specific modification, and inducing epigenetic changes to improve pathological symptoms. Viruses are investigated for their capacity to evade the cells and insert genetic material. Hence, they can be used as vehicles for delivering genes to specific tissues. Human gene therapy poses various limitations due to the immunological barrier. To overcome the limitation, the virus needs to be bioengineered. Our lab focuses on engineering the Adeno-associated virus (AAV)-based vectors for safe and efficient delivery of the gene in the human body.

In the human eye, photoreceptors consist of the photopigments in their outer segments that absorb light. The photo-pigments are composed of apo-proteins, opsins covalently linked to chromophores, which are aldehydes of vitamin A. When the photo-pigments absorb light, 11-cis-retinal is converted to all-trans-retinal, resulting in a conformational change of the G-protein opsin receptor and release of all-trans-retinal. For the normal phototransduction process, the chromophore needs to be regenerated. The regeneration process is shuttled between the retina and the retinal pigment epithelium (RPE). The central enzyme in this process is RPE65. The mutation in the gene encoding RPE65 causes an autosomal recessive Leber’s Congenital Amaurosis (LCA) type 2. My research work aims to identify treatment options for LCA2.