In a groundbreaking discovery, a rare genetic syndrome identified in a young Emirati boy from Ras Al Khaimah is providing crucial insights into a previously undiagnosed condition affecting children across the Middle East. Five-year-old Salem Majed Al Shamili's persistent health issues, including slow growth, frequent infections, neurodevelopmental delays, and distinctive facial abnormalities, puzzled doctors for years.
Driven by his father's det
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| Emirati Boy's Rare Syndrome Key to Recognizing Cases Across Middle East |
ermination, Salem was eventually seen at Al Jalila Children's Hospital in Dubai, where an endocrinology specialist suspected a genetic cause. Detailed genomic analysis, led by Dr. Ahmad Abou Tayoun, Director of the Dubai Health Genomic Medicine Centre and an associate professor at Mohammed Bin Rashid University, revealed that Salem has a condition caused by a single gene mutation.
This pivotal discovery, the result of a five-year research project, has enabled researchers to identify more than a dozen other children in the UAE, Oman, Saudi Arabia, and Lebanon with the same syndrome. The findings, published in the American Journal of Human Genetics, characterize the condition, which appears to be more prevalent in Arab children due to a common genetic variant originating in the Middle East.
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| Emirati Boy's Rare Syndrome Key to Recognizing Cases Across Middle East |
Dr. Abou Tayoun emphasized the significance of this finding, stating, "Although we saw the first patient back in 2020, we really didn't confirm the diagnosis until the conclusion of the study and [after] evaluating all of the data."
The research team collaborated with geneticists in Saudi Arabia and Germany after a gene-based tool matched Salem's symptoms and genetic data with similar cases. This collaboration underscores the importance of international cooperation in unraveling rare genetic disorders.
While there is currently no cure for the newly identified syndrome, early diagnosis offers significant benefits. It can end the diagnostic odyssey for families, provide crucial information for family planning, and enable doctors to manage the symptoms effectively. Salem's father reports that his son is showing "very good" development compared to his early years, with medication helping to control symptoms like spasms and improve his cognitive abilities.
Experts believe that this discovery will pave the way for further research into potential therapies, including gene replacement therapy, which could offer a more definitive treatment in the future if implemented early in development.
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This landmark identification of a rare genetic syndrome in an Emirati child highlights the growing capabilities of genetic research in the Middle East and offers a beacon of hope for families affected by this condition across the region. It also underscores the importance of continued investment in genomic research to better understand and address the unique genetic landscape of the Middle Eastern population.