Scientists at Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU), a key institution under Dubai Health, have identified a novel genetic disorder that impairs growth and development in children.
The breakthrough, published in The American Journal of Human Genetics, pinpoints mutations in the FBXO22 gene as the cause of a range of serious pediatric conditions.
Led by Dr. Ahmad Abou Tayoun, the international study uncovered that disruptions in FBXO22 lead to growth restriction, intellectual disability, and complications affecting the heart, gut, and bones. The research analyzed 16 cases from 14 families across the UAE, Saudi Arabia, Oman, and Lebanon using advanced genome sequencing technologies.
“This study demonstrates how local genetic research can uncover the root causes of complex conditions and support accurate diagnosis and counseling,”
said Dr. Abou Tayoun, Director of Dubai Health’s Genomic Medicine Center.
Importantly, the team identified a distinct molecular marker in the blood, offering hope for the development of a targeted diagnostic test.
Professor Alawi Alsheikh-Ali, Provost of MBRU, emphasized the significance of translational research, calling the discovery
“a testament to global collaboration and MBRU’s commitment to improving lives through science.”
Supported by the Al Jalila Foundation, MBRU, and KAUST’s Centre of Excellence for Smart Health, the study highlights the growing impact of regional research in solving global health challenges. It also underlines the importance of integrating clinical expertise, notably from endocrinology teams, in advancing rare disease diagnosis and care.
This discovery not only deepens understanding of the human genome but also brings new hope to families navigating complex pediatric disorders.
News Source: Emirates News Agency
