Breakthrough gene therapy offers new hope for Glaucoma and Neurodegenerative diseases

New Delhi: Researchers at Macquarie University have discovered gene therapy that could offer new hope for glaucoma patients and potentially benefit those suffering from other neurodegenerative diseases, including Alzheimer’s.

Glaucoma, a serious eye condition that can lead to irreversible blindness over 10 to 15 years if left untreated, affects approximately 11.2 million people aged 40 and older in India. Globally, the number of cases is projected to reach 111.8 million by 2040. The condition is characterized by an imbalance in tau protein, which is essential for the function of cells in the brain and central nervous system. Excessive tau production forms tangles that clog the cells’ internal structures leading to inner retinal degeneration. These tangles have also been found in Alzheimer’s disease patients.

Research led by Macquarie University’s Vision Science Group has found that altered tau protein plays a significant role in the development of glaucoma. The team discovered that maintaining a delicate balance of tau is crucial for retinal health. 

Associate Professor Vivek Gupta, research leader at Macquarie University, explained, “We have shown that tau is vital to maintaining retinal integrity, but it is a delicate balance. When we over-produced tau, we observed inner retinal degeneration, but when there was too little tau, that was also detrimental. Switching off the over-production and knocking down the tau to healthy levels provided protection against the degenerative changes associated with glaucoma. This protective effect was evident in both the structural preservation of retina cells and their function. While it was not able to restore lost vision, it did stop the retinal degeneration from worsening.”

He further added, “These findings highlight the critical role of tau protein in retinal health, and suggest that targeting tau could be a promising therapeutic strategy for glaucoma, particularly when administered early.”

Dr. Kanishka Pushpita Maha Thananthirige, the lead author of the study, highlighted, “The team aims to develop a gene therapy to use in conjunction with treatments that lower interocular pressure after glaucoma is diagnosed. This kind of gene therapy that controls tau production can be designed to target neurons in the brain and central nervous system, as well as those in the retina. With altered, or pathogenic, tau often present in the neurons of patients with Alzheimer’s disease, there is good potential that it could also be beneficial in treating these and other neurodegenerative diseases.”

The next phase of the research involves testing the therapy in animal models, with human clinical trials anticipated to be several years away.