M42 has unveiled the results of a nationwide study conducted in partnership with the Department of Health – Abu Dhabi, showing that genomics can support early detection and prevention of inherited eye diseases in the Emirati population.
The research identified nearly 100 genetic causes linked to inherited vision loss and understanding genetic risk factors associated with eye health.
The findings are expected to support earlier interventions and more precise treatment pathways, reinforcing Abu Dhabi’s transition toward predictive and preventive healthcare models.
The study draws on genomic data from more than 500,000 Emirati participants enrolled in the Emirati Genome Program, one of the world’s largest national sequencing efforts.
The program, overseen by the Emirates Genome Council, has created a comprehensive database that enables population-level analysis and supports evidence-based healthcare planning.
By integrating genomic information with anonymized health records through Malaffi, researchers were able to convert complex genetic data into actionable clinical insights.
This approach allows healthcare providers to identify individuals at higher risk of developing inherited conditions even before symptoms emerge.
Advancing preventive healthcare models
The findings highlight how genomics can complement traditional clinical research by enabling earlier diagnosis, targeted monitoring, and personalized care strategies.
Healthcare professionals can now design tailored interventions, including genetic counseling and proactive screening, aimed at reducing long-term disease burden.
Dr. Noura Al Ghaithi Undersecretary DoH-Abu Dhabi
“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. By integrating genomics into the healthcare ecosystem, we are strengthening early detection, enabling preventive interventions, and advancing evidence-based health policies that protect community health and improve quality of life over the long term.”
Dimitris Moulavasilis, Group Chief Executive Officer, M42, stated that, “This research demonstrates the scale of what’s possible when genomics is paired with real-world health data. Through the Emirati Genome Program, we are unlocking deep insights that support early prevention and contribute to developing more precise and sustainable care at the community level.”
The study also identified key genes such as ABCA4, associated with inherited retinal disorders including Stargardt disease—a rare condition that leads to progressive central vision loss, often beginning in childhood or adolescence.
Researchers also detected a rare but treatable genetic condition linked to early-onset visual impairment, demonstrating the potential of genomics to enable earlier diagnosis and targeted treatment.
The analysis revealed that a higher prevalence of certain genetic variants within a population does not always correlate with increased disease risk, highlighting the need for nuanced interpretation of genomic data.
With more than 850,000 genomes sequenced to date under the Emirati Genome Program, the initiative continues to position Abu Dhabi at the forefront of global health innovation.
