Latest news with #genomic science
Economy ME
6 days ago
- Health
- Economy ME
MBRU scientists publish first Arab Pangenome Reference in major genomic breakthrough
Scientists at the Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU), the academic and research arm of Dubai Health , have achieved a major milestone in global genomic science with the publication of the first Arab Pangenome Reference. Featured in Nature Communications , a leading peer-reviewed journal, the study marks a pivotal advancement in precision medicine and personalized healthcare for Arab populations. The landmark achievement supports the UAE's National Genome Strategy, a 10-year initiative launched in 2023 by the Emirates Genome Council. The strategy aims to transform healthcare in the UAE through cutting-edge genomic research focused on personalized, preventive, and precision medicine. The Arab Pangenome Reference was created using high-quality DNA sequencing from 53 individuals of diverse Arab heritage residing in the UAE. Conducted at MBRU's state-of-the-art Center for Applied and Translational Genomics (CATG), the research identified more than 110 million base pairs of novel DNA sequences. Additionally, it uncovered nearly 9 million small genetic variations and over 235,000 large structural differences unique to Arab populations — none of which had been previously reported in global DNA references. Read: Sheikh Hamdan awards golden visas to nurses with 15+ years of service at Dubai Health Leadership insights Professor Alawi Alsheikh-Ali , director general, Dubai Health Authority (DHA), 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.' 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.' Professor Alawi Alsheikh-Ali, director general, Dubai Health Authority (DHA) Addressing gaps in global genomic databases Historically, global genomic databases have significantly underrepresented Arab populations, limiting the accuracy of genetic risk assessment and treatment strategies for these communities. The Arab Pangenome Reference fills a critical gap by introducing high-resolution genomic data from a population long absent in international references. One particularly notable finding from the study was the discovery of the duplicated gene TAF11L5, which is highly enriched among Arab individuals but missing in existing global genomic references. Researchers believe this gene could influence the regulation of other genes and may hold important insights into disease risk and variations in treatment response. Enabling precision healthcare in the Arab World The Arab Pangenome Reference provides a foundational tool for national and regional precision medicine initiatives. It enables the development of population-specific biomarkers, disease risk models, and targeted therapies — advancing the region's ability to deliver more accurate, personalized healthcare solutions. Alongside the genomic map, the research team also introduced a new bioinformatics tool called PanScan. Designed to support more complex analysis of human pangenomes, PanScan helps researchers detect gene duplications, novel DNA variants, and complex genomic structures. Though not the main focus of the study, the tool has been made freely available on GitHub, offering global researchers access to further investigate human genomic diversity. The strategy aims to transform healthcare in the UAE through cutting-edge genomic research focused on personalized, preventive, and precision medicine A strategic step toward global representation Genomic research has progressed rapidly in recent decades, but much of the foundational data has come from a limited range of populations, creating blind spots in medical understanding. The Arab Pangenome Reference contributes to a growing international effort to correct this imbalance and promote global inclusivity in genomic science. The initiative also reflects Dubai Health's long-term commitment to research and innovation through MBRU. By investing in foundational studies such as this, Dubai Health is ensuring that Arab populations are actively represented in the future of genomics and precision healthcare. This groundbreaking research not only elevates the UAE's position in global genomic science but also lays the groundwork for more equitable, effective, and personalized healthcare systems across the Arab World.
Fast Company
18-07-2025
- Health
- Fast Company
The next frontier for precision medicine: Pediatricians
Many families now have a new reality when they visit their pediatrician's office. Instead of leaving with more questions, they have answers and a real plan. Genomic testing, once reserved for rare or complex cases and ordered by specialists, is rapidly becoming a standard tool in pediatric care. The latest guidance from the American Academy of Pediatrics (AAP), released this year, recommends using exome and genome sequencing as a first-tier test for more children, particularly those with developmental delays and intellectual disabilities. More than one in three children with developmental delays, intellectual disabilities, or autism have an underlying genetic condition that can be found using genetic testing. Given known genetic links to autism, pediatricians can now genomic insights right from the start, moving forward bringing answers and actionable next steps in a child's care journey. This shift is transforming how we diagnose, treat, and support kids with unexplained medical challenges. Invest in science Spun out of the National Institutes of Health (NIH), GeneDx was founded 25 years ago on the belief that genomic science could fundamentally change how we diagnose and treat disease. At the time, this field felt like the frontier, a promising but distant future, more exploration than clinical applications. Today, that vision is a reality. GeneDx has discovered more than 500 links between specific genes and diseases. What once felt futuristic is now central to modern pediatric care. Genomic testing has become faster, more affordable, and more accessible. The updated AAP guidance means genomic testing should be integrated into every family's pediatric office. It should be used to diagnose rare diseases and understand the genetic cause of common conditions like autism and epilepsy with greater speed and precision. It's not just about understanding the root cause, it's about accelerating the path to accurate treatment that can change or save children's lives. This transformation didn't happen overnight. It was the result of decades of scientific investment—our collective bet on the future of healthcare—to one day ensure children live longer and healthier lives. That investment paid off. Genomic testing not only improves outcomes for patients and families, but it also reduces overall healthcare costs through fewer unnecessary tests and procedures, earlier diagnoses, and more targeted interventions and treatments. Continued investments in science and medicine are essential. Advancing access to genomic testing isn't just about what's possible today, it's about building a healthcare system that's smarter, more sustainable, and truly patient-centered. Why genomic testing matters What was once only available to few, is now broadly available. Genomic testing offers immediate and profound benefits for families. For children facing developmental delays or other unexplained health issues, a single test can sometimes reveal the underlying cause in weeks or even days, in critical situations. This means families no longer must endure months or sometimes years of uncertainty—with multiple rounds of inconclusive tests, uninformative specialist visits, or unnecessary medical bills and suffering. Instead, clear answers can arrive quickly, allowing everyone to move forward with personalized treatment plans in confidence. With a genetic diagnosis in hand, doctors can provide truly targeted care, tailoring treatments, therapies, and support to fit the unique needs for a diagnosis and in some cases, even stop disease progression. A confirmed diagnosis also opens doors to early intervention, specialized care teams, clinical trials, and support networks that might otherwise remain out of reach. Exome and genome testing are transforming the path to answers and support for children and their families, and now it's more accessible than ever before. Looking ahead We see the AAP's guidance as a major milestone, bringing genomics into everyday pediatric care. And for the first time, genomics is equipping pediatricians with critical insights to support early diagnosis and intervention. But this is just the beginning. We're still in the early chapters of what genomic science and care can unlock. To fully realize its potential, we must continue investing in innovation and driving progress that elevates the standard of care across every clinical setting. Where a child accesses care should never determine their outcome. Today, we see genomic insights shaping the future in pediatricians' offices. Tomorrow, we envision a world where every baby's genome is sequenced at birth, giving families the power to stop disease before symptoms even start. My career has been dedicated to expanding access to genomic testing, and I commend the AAP for helping pave the way toward a new standard of care, one where genomics plays a central role in improving pediatric health outcomes nationwide. The path to answers—and to hope—has never been more accessible. Bringing genomics into the hands of every pediatrician marks a critical step toward shortening the diagnostic journey for families, enabling earlier intervention, and reducing costs for both patients and the healthcare system. It's a meaningful advancement in pediatric care, and one that brings us closer to a future where children can be diagnosed before symptoms even begin.
