The study Reveals Innovative Techniques for Detecting and Diagnosing Rare Diseases 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.
