Abu Dhabi genomics study identifies 100 genetic causes of inherited vision loss in Emirati population

A national genomics study conducted in Abu Dhabi has identified around 100 genetic causes of inherited vision loss across the Emirati population, in findings that researchers say could support earlier detection and more targeted interventions for eye disease.

The study was carried out by M42, a health technology company, in partnership with the Department of Health – Abu Dhabi, drawing on genomic data from more than 500,000 Emirati citizens enrolled in the Emirati Genome Programme, one of the largest national genomic sequencing initiatives in the world, with more than 850,000 genomes sequenced to date.

Researchers linked genetic data with anonymised health records through Malaffi, Abu Dhabi’s health information exchange platform, enabling the translation of population-level genomic findings into clinically actionable insights.

The approach is designed to allow healthcare professionals to identify individuals at elevated risk before symptoms emerge, supporting early monitoring, genetic counselling, and personalised care pathways.

Among the genes identified was ABCA4, associated with Stargardt disease: a rare inherited retinal condition that causes progressive loss of central vision, typically presenting in childhood or adolescence. The study also identified a rare but treatable genetic condition linked to early-onset visual impairment, and found that a higher frequency of a genetic variant within a population does not necessarily correspond to greater disease risk.

The findings are positioned as part of Abu Dhabi’s broader shift from reactive treatment towards preventive and predictive care models, with population-scale genomics presented as a complement to traditional clinical research rather than a replacement for it.