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Emirates 24/7
7 days ago
- Health
- Emirates 24/7
Dubai Health scientists publish first Arab Pangenome Reference, marking a milestone for precision medicine
Scientists at the Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU), the learning and discovery arm of Dubai Health, have published the first Arab Pangenome Reference, marking a major milestone in both regional and global genomic research. The study, released in Nature Communications, a leading scientific journal, provides a crucial foundation for advancing precision medicine and personalised healthcare for Arab populations, while also supporting the UAE's National Genome Strategy, a 10-year initiative launched in 2023 by the Emirates Genome Council to advance personalised, preventive, and precision healthcare through cutting-edge genomic science. The reference was built using high-quality DNA sequencing from 53 people of diverse Arab backgrounds in the UAE. The work, conducted in MBRU's state-of-the-art Center for Applied and Translational Genomics (CATG), uncovered over 110 million base pairs of novel DNA sequences and identified nearly nine million small differences and more than 235,000 larger structural differences specific to Arab populations that have not been reported before. These findings are significant, as global DNA references have historically underrepresented Arab populations — a gap this research helps to close. The Arab Pangenome Reference supports national and regional precision medicine initiatives by enabling the development of population-specific biomarkers, risk models, and therapeutic targets. One notable discovery was the duplicated gene TAF11L5, found highly enriched in Arab individuals studied but absent from global references. This gene may play a role in regulating other genes and could have implications for understanding disease risk and individual variation in treatment response. Professor Alawi Alsheikh-Ali, Director General, Dubai Health Authority, and co-author of the study, said: 'This achievement strengthens the UAE's position in genomic science. By building a reference that reflects the genetic diversity of Arab populations, we are enabling more precise and equitable healthcare. It's a foundational step towards realising the goals of our National Genome Strategy and ensuring that future medical innovations are shaped by data from our own communities.' Dr. Hanan Al Suwaidi, Acting Provost of MBRU, and co-author of the study said: 'The capabilities of the CATG lab were central to the success of this project. From genetic sequencing to advanced bioinformatics, every stage of the research was completed in-house. This level of integration gave us full control over quality and timelines, reflecting Dubai Health's commitment to building world-class infrastructure and fostering national scientific leaders." While genomic research has advanced rapidly over the past two decades, much of the foundational data has come from a narrow subset of global populations. This has created blind spots in how genetic risk is understood and addressed across different communities. The Arab Pangenome Reference contributes to a growing international effort to correct this imbalance by introducing high-quality data from a historically underrepresented population. Dr. Mohammed Uddin, Director of CATG and Associate Professor of Genetics at MBRU, and senior author of the study, said: 'This pangenome reference marks a major advancement in our understanding of Arab genomic diversity. It serves as a critical resource for both research discovery and clinical genome diagnostics, with lasting impact for future generations across the region.' The project also developed 'PanScan', a bioinformatics tool to support more complex analysis of human pangenomes. Although not the central focus of the study, PanScan enables researchers to detect gene duplications, novel DNA changes, and complex DNA structures. Now publicly available on GitHub, a common resource used by scientists worldwide, the tool was created to support the Arab Pangenome Reference and similar efforts globally. Dr. Nasna Nassir, lead author of the study and Assistant Professor at MBRU, said: 'To support the Arab Pangenome Reference study, we developed PanScan, a tool designed to identify novel variants, gene duplications, and complex haplotype patterns specific to Arab populations. PanScan was key to uncovering unique genomic insights in our study and is now publicly available to support similar research globally.' The research reflects Dubai Health's commitment to advancing learning and discovery through MBRU. The university's research strategy is focused on contributing to global scientific progress. By investing in foundational genomic research, Dubai Health is helping to ensure that Arab populations are represented in the future of precision healthcare. The full study is available at:
Khaleej Times
14-03-2025
- Health
- Khaleej Times
UAE: 2,400 couples undergo premarital genetic screening; 92% found compatible
Around 2,400 couples have undergone premartial genetic screening so far with 92% found to be compatible, as part of the UAE's Genome Programme, it was announced on Friday. Abu Dhabi Crown Prince Sheikh Khaled bin Mohammed bin Zayed Al Nahyan, who is also the Chairman of the Abu Dhabi Executive Council, chaired a meeting of the Emirates Genome Council, and the council approved programmes for newborn genetic screenings, expanded genetic screening for adults in the UAE Genome Programme, personalised fertility and cardiovascular genetic screening.. The Premarital Genetic Screening Programme was implemented from January 1, 2025 by the Ministry of Health and Prevention, in collaboration with the Department of Health – Abu Dhabi, Emirates Heath Services, Dubai Health Authority, and strategic partners. To date, it has supported 2,428 couples, finding more than 92 per cent genetically compatible through comprehensive genetic screening of 570 genes linked to more than 840 genetic disorders. Couples who required additional support were provided personalised genetic counselling to assess and diagnose risk factors and offer potential solutions to support family planning decisions. The programme aims to safeguard community members from hereditary diseases and empower couples to utilise genetic data to make informed decisions in family planning, preserving the health and wellbeing of community members and ensuring a healthier future for generations to come. New population screening programmes The Abu Dhabi Crown Prince endorsed new population screening programmes that expand the utilisation of genomic data and accelerate genome-driven personalised healthcare in the UAE. The programmes include newborn genetic screenings, enhanced screenings of adult participants in the Emirati Genome Programme, provision of personalised fertility programmes, and cardiovascular genetic screening. The newborn genetic screening programme will assess genetic conditions with available treatments and early intervention options for infants, assessing 733 genes to test for more than 800 conditions. Population disease screenings, for adults participating in the Emirati Genome Programme, aim to further identify actionable and relevant conditions for UAE nationals, by assessing 94 genes linked to more than 50 genetic conditions. The personalised fertility programme assesses 186 genes linked to more than 130 genetic conditions, to provide personalised medicine recommendations and treatments for couples. Cardiovascular screenings will provide genetic diagnosis and treatment, as well as early prevention, for cardiovascular related conditions through the assessment of more than 800 genes linked to more than 100 genetic conditions. T2T Emirati Reference Genome study Sheikh Khaled was briefed on the completion of the landmark Telomere-to-Telomere (T2T) Emirati Reference Genome study aimed at advancing precision medicine for communities in the UAE. The study, by the Department of Health – Abu Dhabi, in collaboration with Khalifa University and M42, bridges critical gaps in genomic data and provides a vital resource that enhances the ability to compare with other reference genomes, supporting the advancement of disease research, pharmacogenomics and the development of Emirati-specific targeted therapies. Emirati Genome Programme progress The Abu Dhabi Crown Prince was also updated on the progress of the Emirati Genome Programme, which has collected more than 700,000 genetic samples from citizens across the nation, marking significant progress towards the overall target of 1 million. In addition, the Emirati Genome Programme has completed the collection of 100,000 samples from participants from different nationalities for a new initiative that leverages the UAE's advanced genomic capabilities. The project, in collaboration with M42, helps reduce gaps in genomic data globally by providing insights into genetic mutations affecting over 2.5 billion people across different ethnicities, with the aim to drive further collaboration on precision medicine research and solutions. The Emirati Genome Programme is a key project under the National Genome Strategy and will support the transformation of healthcare services in the UAE by providing high-quality genetic data that enables researchers, physicians and scientists to identify the causes of genetic diseases, understand the type of genetic mutations, anticipate susceptibility to some diseases, and develop effective personalised healthcare plans.
