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How did a UAE-based geneticist contribute to identifying a previously unknown rare genetic disorder?

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Day of Dubai
When routine genetic tests failed to explain symptoms like developmental delays and muscle weakness in several children, Ayman W. El-Hattab and his team pushed beyond standard diagnostics to uncover a shared mutation in a gene not previously linked to disease. This led to the discovery of El-Hattab–Schmidt syndrome, first described in 2018 and later recognised globally after similar cases were reported internationally. The condition is inherited in an autosomal recessive pattern and, while it currently has no targeted cure, its identification allows doctors to better monitor patients for related complications and provide more structured care. Experts say naming such conditions is a major breakthrough — it helps families understand the diagnosis, explore preventive options like genetic testing, and opens the door for future research into treatments. Initiatives like the Emirati Genome Program are also improving early detection and expanding knowledge of rare diseases in the region. What are your thoughts — could advances in genetic research help reduce the years many families spend searching for a diagnosis?
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