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New Discovery at Mohammed Bin Rashid University of Medicine and Health Sciences Identifies Genetic Cause of a Rare Childhood Growth and Developmental Condition
16 Apr 2025
Scientists at Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU), which leads the Learning and Discovery missions of Dubai Health, have identified a novel genetic disorder affecting children’s growth and development. Published in a leading journal, The American Journal of Human Genetics, this study identifies a problem in the FBXO22 gene, which causes various health issues in children, including growth restriction, intellectual disability, and other physical challenges. This discovery could enable more accurate diagnosis and genetic counseling, supporting informed family planning and long-term care for affected families.
Professor Alawi Alsheikh-Ali, Chief Academic Officer of Dubai Health and Provost of MBRU, said, “At Dubai Health, research is central to how we advance patient care and serve our communities. This study highlights the power of global collaboration and the impact of translational research at MBRU. We are proud to lead this important genetic discovery as part of a global collaboration and generate knowledge that holds real promise for patients and their families.”
The study included an international team of scientists and clinicians, led by Dr. Ahmad Abou Tayoun from MBRU. The team identified that mutations in the FBXO22 gene impair its function, leading to various developmental abnormalities. These include severe pre- and postnatal growth restrictions, intellectual disability, and additional complications affecting the cardiac, gastrointestinal, and skeletal systems.
Dr. Ahmad Abou Tayoun, Associate Professor of Genetics at MBRU and Director of Dubai Health’s Genomic Medicine Center, said, “This study demonstrates how genetic research on local populations can uncover the root causes of complex pediatric conditions, provide a framework for more accurate diagnosis and counseling, and contribute to global efforts to better understand the human genome. Through this discovery, we can provide a framework for more accurate diagnosis and genetic counseling, offering affected families meaningful answers to support future family planning. This work also highlights the importance of close collaborations with clinical teams, particularly the endocrinology team led by Dr. Nandu Thalange, who first identified and investigated the index case.”
The study included 16 cases from 14 families across the UAE, Saudi Arabia, Oman, and Lebanon. The team used advanced short- and long-read sequencing technology to study the children’s DNA and find the FBXO22 problem. The condition showed overlapping features with other known genetic disorders, further highlighting the critical role of FBXO22 in normal growth and development.
Dr. Fahad Ali, Assistant Professor of Molecular Biology at MBRU, said, “A key aspect of this study was identifying a unique marker in the blood that serves as a molecular fingerprint for this condition. This discovery could pave the way for a simple diagnostic test, enabling earlier detection and better support for affected families.”
The study was supported by funding from the Al Jalila Foundation, MBRU, and the King Abdullah University of Science and Technology (KAUST) Center of Excellence for Smart Health, among others. It reflects MBRU’s ongoing mission to address pressing health challenges through innovative research and global partnerships.
Dubai Health Genomic Medicine’s Study Published in Nature Communications
In a step that further strengthens Dubai’s global standing in advanced scientific research, a research team at Dubai Health has published a new scientific study in the international medical journal Nature Communications, revealing innovative techniques for the detection and diagnosis of rare diseases using genomic medicine.
The study, titled "Long Read Sequencing Enhances Pathogenic and Novel Variation Discovery in Patients with Rare Diseases," provides a scientific framework to improve the diagnostic accuracy of rare diseases. It demonstrates how advances in clinical genetic testing can increase precision and lead to more effective medical tools, directly supporting the healthcare system and Dubai Health’s Patient First commitment.
Dr. Rasha Buhumaid, Dean of the College of Medicine and Graduate Medical Education at Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU), the learning and discovery arm of Dubai Health, said: “This success reflects our commitment to fostering scientific research within Dubai Health and our strategic partnership between academic inquiry and clinical practice. It is a purposeful step toward developing medical practices that enhance wellbeing and elevate the quality of patient care."
She added: “Fatma’s achievement demonstrates the strength of our graduate programs and the vibrant research culture across our academic health system. Through our Master’s and PhD programs in Biomedical Sciences, MBRU is dedicated to preparing research professionals equipped with rigorous scientific thinking and advanced research skills, fostering a discovery-based learning environment that supports sustainable development in healthcare. These research-intensive programs combine rigorous academic training with hands-on experience across Dubai Health’s clinical and research facilities. Students benefit from competitive financial support, including full scholarships for PhD candidates and substantial aid for Master’s students, enabling them to pursue high-impact research.”
Diagnostic Accuracy
Fatma Rabea, Emirati PhD student at MBRU, and spokesperson for the research team, explained that the study plays a key role in enhancing the accuracy of diagnosing rare diseases by using modern techniques to uncover their genetic origins. This approach supports evidence-based treatment decisions and helps elevate the standard of care for these patients, empowering them through precise diagnosis.
Fatma noted that the study analyzed clinical samples, demonstrating that long-read genomic sequencing techniques significantly improved diagnostic accuracy for rare diseases by identifying genetic variants missed by traditional methods. This led to new diagnoses for approximately 10% of the cases studied, providing essential treatments and enhancing wellbeing.
The Hamdan Medical Research Award
The study was honored with the prestigious Arab Award for Research in Healthcare, as part of the Hamdan bin Rashid Al Maktoum Foundation for Medical and Educational Sciences 2025 Medical Awards. This honor recognizes the meaningful contributions MBRU students make in advancing discovery and contributing to globally relevant research. This accolade recognizes the study's substantial scientific contribution to improving diagnostic precision for rare diseases, which directly enhances overall patient care.
To access the study, visit https://www.nature.com/articles/s41467-025-57695-9.