M42 study highlights role of genomics in early detection of inherited eye diseases

M42 has announced the results of a national study, conducted in partnership with Department of Health – Abu Dhabi, highlighting how genomics can support early detection and prevention of inherited eye diseases.

The study identified around 100 genetic causes linked to vision loss among Emiratis, marking a step forward in understanding genetic risks and improving early care.

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Large-scale data analysis

The research was based on genomic data from more than 500,000 Emiratis as part of the Emirati Genome Programme. 

Officials said the programme provides a strong data base to support preventive healthcare and guide decision-making. 

By linking genetic data with health records through Malaffi, researchers were able to turn findings into practical insights for healthcare planning. 

Early detection and prevention 

Experts said the approach allows doctors to identify individuals at higher risk before symptoms appear. 

This supports early monitoring, genetic counselling and more personalised treatment plans.

Officials added that such work reflects a wider shift towards preventive healthcare, focusing on early action instead of treatment after illness.

Key findings 

The study highlighted the role of specific genes, including ABCA4, which is linked to inherited retinal conditions such as Stargardt disease. 

This condition affects the retina and can lead to gradual loss of central vision, often starting at a young age. 

Researchers also identified a rare but treatable genetic condition related to early vision problems, showing the value of early diagnosis. 

Supporting better care

Noura Al Ghaithi said the study supports efforts to build a more proactive healthcare system. 

“Using advanced science helps us improve early detection and support better health outcomes,” she said. 

Dimitris Moulavasilis said combining genomics with real-world data opens new opportunities for prevention and personalised care.

Looking ahead 

Officials said the study is part of wider efforts to strengthen healthcare in Abu Dhabi through innovation and data. 

The Emirati Genome Programme has already sequenced more than 850,000 genomes, making it one of the largest initiatives of its kind.

They added that such projects help improve quality of life and support long-term health planning across the UAE.