"M42" Reveals the results of a national genomic study to prevent hereditary eye diseases
ABU DHABI, 21st April, 2017 (WAM) – M42 Company revealed the results of a national genomic study completed in partnership with the Department of Health – Abu Dhabi, highlighting the transformative impact of genomics in promoting early detection and prevention of hereditary eye diseases at the community level.
The study showed that about 100 genetic causes of hereditary vision loss were identified among members of Emirati society, in a qualitative scientific achievement that deepens the molecular understanding of the genetic risks associated with vision health, and paves the way for the activation of early preventive interventions characterized by a high degree of accuracy and efficiency.
The study was based on the analysis of genomic data for more than 500,000 Emirati citizens participating in the Emirati Genome Program, which is implemented under the supervision of the Emirates Genome Council and in cooperation with national health authorities, which allowed the establishment of a comprehensive and deep knowledge base that contributes to directing preventive care strategies at the population level, and reflects the accelerating transformation in the health system in Abu Dhabi towards predictive and proactive care models concerned with enhancing the quality of life and its sustainability.
Through secure integration between genomic data and health records via the “Malafi” health information exchange platform, researchers have succeeded in transforming scientific data into actionable applied insights that support medical decision-making and health planning at the system level.
The study highlighted the role of specific genes, including the ABCA4 gene, which is associated with hereditary retinal diseases such as Stargardt disease, which is a rare genetic disorder that affects the retina and leads to a gradual deterioration in central vision, often beginning in childhood or adolescence.
Community-level analysis also made it possible to distinguish between individual clinical patterns and broader trends, opening up advanced prospects for early diagnosis and enhanced preventive care.
The study also identified a rare but treatable genetic condition associated with early visual impairment, emphasizing the importance of accurate, evidence-based scientific interpretation when dealing with genomic data, and that a high frequency of a particular genetic variant within a population does not necessarily mean an increased risk of developing the disease.
This advanced approach enables medical personnel to identify groups most at risk before symptoms appear, which enhances early monitoring programs, genetic counseling, and the design of customized treatment paths, and establishes a qualitative transition from the reactive care model to a proactive, evidence-based preventive system.
Her Excellency Dr. Noura Al Ghaithi, Undersecretary of the Department of Health – Abu Dhabi, said that this study embodies Abu Dhabi’s firm commitment to employing advanced science and health data to establish a preventive and proactive health care model, based on enhancing early detection capabilities, enabling preventive interventions, and formulating evidence-based health policies, which contributes to preserving community health and improving the quality of life in the long term.
For his part, Dimitris Molavasilis, Group CEO at M42, stressed that the study reflects the transformative potential of integrating genomics with real-world health data, noting that the outputs of the UAE Genomics Program contribute to generating in-depth insights that support early prevention, and pave the way for building a more accurate and sustainable health care system at the community level.
This study comes within the outputs of the UAE Genome Programme, which is one of the largest national genomic sequencing programs in the world, with the number of genomes sequenced exceeding 850,000 to date, in a clear embodiment of Abu Dhabi’s commitment to employing advanced science to build a sustainable preventive health system, and to consolidate its position as a leading global model in health innovation and enhancing the quality of life for future generations.
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