Dubai Health publishes a scientific study specializing in genetic medicine in an international medical journal

A research team at Dubai Health published a new scientific study in the international medical journal Nature Communications, in which it revealed innovative techniques for discovering and diagnosing rare diseases using genetic medicine, in a step that consolidates Dubai’s position globally in the field of advanced scientific research.

The study, titled “Long-term genetic sequencing enhances the discovery of new disease-causing variants in people with rare diseases,” provides a scientific framework to support the diagnosis of rare diseases, as it addressed the use of advanced technologies in clinical genetic examinations that contribute to enhancing the accuracy of diagnosis and developing more effective medical tools, in a way that supports the health care system.

Dr. Rasha Buhumaid, Dean of the College of Medicine and Dean of Postgraduate Medical Studies at Mohammed Bin Rashid University of Medicine and Health Sciences, the learning and discovery arm of Dubai Health, said that this success reflects the quality of our postgraduate programs and our keenness to empower students with scientific thinking skills and advanced research work, within the framework of a system that supports scientific research within Dubai Health. It also confirms our commitment to achieving integration between the academic path and practical application, which contributes to developing medical practices and improving the quality of health care.

She added that Mohammed Bin Rashid University of Medicine and Health Sciences is keen to prepare research cadres capable of contributing to the development of medical knowledge through master’s and doctoral programs in biomedical sciences, and providing a learning environment based on discovery, noting that these programs combine advanced academic training and practical application in Dubai Health facilities, in addition to providing scholarships for doctoral students and financial support for master’s students, enabling them to focus on qualitative research with a tangible impact and enhancing national research competencies.

For her part, Fatima Rabie, a doctoral student at the Mohammed Bin Rashid University of Medicine and Health Sciences, and spokeswoman for the research team, explained that the study contributes to enhancing the accuracy of diagnosis of rare diseases, through advanced detection of their genetic causes using modern technologies, which supports reaching evidence-based treatment decisions, and contributes to improving the quality of health care provided to this category of patients.

She stated that the study included the analysis of a group of samples, and its results showed that long-read genetic sequencing techniques improved the accuracy of diagnosing rare diseases by detecting genetic variants not previously observed using traditional methods, which allowed for new diagnoses to be reached for about 10% of cases.

The study won the Arab Award for Research in the Health Sector, within the Hamdan Bin Rashid Al Maktoum Foundation Award for Medical and Educational Sciences for the year 2025, because of the added scientific importance that contributed to enhancing the accuracy of diagnosis of rare diseases.