A national study in Abu Dhabi used data from 500,000 citizens to improve early detection and prevention of inherited eye diseases.
M42 and the Department of Health – Abu Dhabi released results of a national study showing how genomics can enhance the early detection and prevention of inherited eye diseases. The study identified approximately 100 genetic causes of vision loss across the population, marking a step toward more precise early interventions.
The research was based on the analysis of genomic data from more than 500,000 citizens participating in the Emirati Genome Programme. The program, which is supervised by the Emirates Genome Council, has sequenced more than 850,000 genomes to date.
Integrating Genomic Data into Clinical Care
By linking genetic information with anonymized health records through Malaffi, a health information exchange platform, researchers translated scientific findings into insights for medical decision-making. This approach allows healthcare professionals to identify high-risk individuals before symptoms appear, facilitating early monitoring, genetic counseling, and personalized care pathways.
“This study reflects Abu Dhabi’s commitment to harnessing advanced science and health data to accelerate the shift towards a more preventive and proactive model of care,” says Noura Al Ghaithi, undersecretary of the Department of Health – Abu Dhabi, in a release. “By integrating genomics into the healthcare ecosystem, we are strengthening early detection, enabling preventive interventions, and advancing evidence-based health policies.”
The study also demonstrates how large-scale population genomics can complement traditional clinical research to support proactive prevention.
“This research demonstrates the scale of what’s possible when genomics is paired with real-world health data,” says Dimitris Moulavasilis, group chief executive officer of M42, in a release. “Through the Emirati Genome Programme, we are unlocking deep insights that support early prevention and contribute to developing more precise and sustainable care at the community level.”
Identifying Specific Genetic Risks
The research highlighted the role of specific genes, including ABCA4, which is associated with inherited retinal diseases such as Stargardt disease. Stargardt disease is a rare genetic disorder that affects the retina and leads to progressive loss of central vision, often beginning in childhood or adolescence.
Population-level analysis enabled researchers to differentiate between individual clinical patterns and broader trends, opening new pathways for early diagnosis. Additionally, the study identified a rare but treatable genetic condition associated with early-onset visual impairment, showing how population-scale genetic testing can support targeted care.
The findings also indicate that a higher frequency of a genetic variant within a population does not necessarily equate to an increased risk of disease. This data-driven approach is part of an effort to build a sustainable health system powered by artificial intelligence, technology, and genomics.
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