Photo Credit : WAM
Abu Dhabi-based M42 has unveiled findings from a national genomics study conducted in collaboration with the Department of Health – Abu Dhabi, underscoring the growing role of genetic science in detecting and preventing inherited eye diseases at an early stage.
The study identified nearly 100 genetic causes linked to inherited vision loss among Emiratis, offering new insights into population-level risk factors and enabling more targeted early interventions. The research draws on genomic data from over 500,000 citizens enrolled in the Emirati Genome Programme, one of the world’s largest sequencing efforts supervised by the Emirates Genome Council.
Officials said the findings support Abu Dhabi’s transition towards preventive and predictive healthcare, shifting focus from treatment to early diagnosis and long-term wellbeing. By integrating genetic data with anonymised health records through Malaffi, researchers were able to generate actionable insights to guide clinical decisions and public health planning.
The approach allows healthcare providers to identify individuals at higher risk before symptoms emerge, enabling earlier monitoring, genetic counselling and personalised treatment pathways. It also highlights how large-scale genomics can complement traditional clinical research and improve population health outcomes.
Noura Al Ghaithi, Undersecretary of the Department of Health – Abu Dhabi, said the initiative reflects the emirate’s commitment to integrating advanced science into healthcare systems to enhance early detection and strengthen preventive care strategies.
Meanwhile, Dimitris Moulavasilis, Group CEO of M42, said the study demonstrates the impact of combining genomics with real-world health data, enabling more precise and sustainable healthcare solutions at scale.
The research also identified specific genes such as ABCA4 gene, associated with inherited retinal conditions including Stargardt disease, which causes progressive central vision loss, often beginning in childhood.
In addition, the study uncovered a rare but treatable genetic condition linked to early-onset visual impairment, highlighting the potential of genomics to support earlier diagnosis and targeted interventions. Researchers also noted that a higher prevalence of certain genetic variants does not always translate into increased disease risk.
With more than 850,000 genomes sequenced to date under the Emirati Genome Programme, the initiative continues to position Abu Dhabi as a global leader in healthcare innovation, advancing a preventive, data-driven model aimed at improving quality of life for future generations.
