Kolkata: Almost two and a half decades ago, a chance encounter with a nearly blind woman and her family from rural Bengal sparked a lifelong mission. Today, that spark has evolved into an internationally recognized initiative. Dr Arijit Mukhopadhyay, Professor of Precision Health at the University of Salford, UK, is collaborating with researchers, clinicians, philanthropists, and industry leaders to eradicate hereditary glaucoma through early clinical interventions.
Alongside his team, Dr Mukhopadhyay has been successfully helping families across West Bengal fight hereditary glaucoma—a leading cause of irreversible blindness that silently claims the sight of individuals, particularly adolescents.
Speaking on the sidelines of Policy Consultation on Integrating Genetic Screening into Public Health Systems for Inherited Glaucoma, a one-day event hosted at The Amartya Sen Research Centre, organised by University of Salford, United Kingdom and the Centre for Research in Policy Communication and Society (CRPCS), Kolkata under the GENE-SIGHT Project, Dr Mukhopadhyay recalled the project’s inception. “The simple question—Can this disease not be prevented through timely intervention?—led to the birth of project GENE-SIGHT. You can consider this project as my way of paying back my research subjects.”
The GENE-SIGHT project (Genetics-enabled Social Innovation for Glaucoma Health & Treatment) aims at making precision genomics step out of high-end urban laboratories and onto the soil of rural Bengal, protecting the sight of vulnerable generations before the disease can even begin.
From Lab to Village: The Genetic Blueprint
Years ago, Dr Mukhopadhyay, as a Phd scholar at the Regional Institute of Ophthalmology along with his research group had mapped the DNA of a highly affected family and identified a specific, aggressive mutation in the Myocilin gene. Armed with this genetic blueprint, the team performed predictive “cascade screening” on more than 30 members of the extended family.
The breakthrough came when the screening pinpointed three children—all under the age of 10—who carried the exact same genetic mutation. Visually, the children felt perfectly healthy, but their DNA revealed a clear countdown to irreversible blindness.
From Data to Knife: The Grassroots Challenge
Genetic data alone cannot save an eye; it requires localised, swift clinical execution. However, this approach brings forward a profound bioethical question: Is it ethical for clinicians to initiate treatment before clinical symptoms manifest?
The initiative spearheaded by Dr Mukhopadhyay had alongside local clinical icon Dr Asim Kumar Sil, Medical Director at the Vivekananda Mission Ashram (Netra Niramay Niketan) in Chaitanyapur, West Bengal, Geneticist Dr Mainak Sengupta, who is also the president of Rotary CC Jadavpur, along with many more formed a group working relentlessly to help those with hereditary glaucoma not lose their vision.
“Genetic diagnosis is now actively used in India to facilitate targeted screening and counseling, especially for hereditary glaucoma,” explains Dr Sil. “We still do not fully understand the root causes of glaucoma. Standard treatment focuses entirely on managing the intraocular pressure (fluid pressure inside the eye) so it doesn’t destroy the optic nerve.”
Dr Sil notes that while pressure is typically managed via medication or surgery, genetics provides a vital safety net. “When standard surgical or medical interventions fail, genetic analysis helps us understand why they are failing and whether a specific mutation is the culprit. In high-risk lineages, families can opt for genetic testing early to map their risk and actively avert blindness.”
“Glaucoma is the silent thief of sight because permanent damage occurs long before patients notice a single symptom,” Dr Mukhopadhyay emphasised. “Genetics gives us a time machine. The future of public eye health in India must belong to prediction, precision, and prevention—not waiting to treat the damage after a child has already gone blind.”
Achieving this national scale will require robust data systems. Adding to the policy discourse, Sabir Ahamed, Programme Director at the Amartya Sen Research Centre, noted: “Integrating clinical knowledge with localized data on glaucoma can completely transform public health outcomes. However, as of now, the widespread availability of such granular genetic data remains our next big challenge.”
The 2026 Policy Blueprint: Redesigning India’s Health Framework
The GENE-SIGHT 2026 conference in Kolkata, brought together clinicians, researchers, policymakers, and public health practitioners like to examine the integration of genetic screening into public health systems for the prevention of hereditary glaucoma through early clinical interventions, which can now help in scaling its vision from saving individual families to reforming national healthcare infrastructure. The goal is to integrate genetic risk screening into existing public health frameworks, catching high-risk pediatric patients years before irreversible disability sets in.
