Pioneering technique transforms genetic disorder diagnoses

23 July, 2024

Despite rapid advances in genetic testing in recent decades, more than half of people worldwide with suspected Mendelian genetic disorders do not have an accurate molecular diagnosis. Others endure more than six years of tests before a diagnosis is given. Now, KAUST researchers and scientists across Saudi Arabia have developed NanoRanger, an accurate and rapid method for genetically diagnosing such diseases in a few hours.

“Precise, efficient genomic diagnosis is urgently needed to improve patient outcomes and facilitate carrier screening,” says Yingzi Zhang, a Ph.D. candidate at KAUST, supervised by Mo Li. “This study aligns with Saudi Arabia’s Vision 2030 — advancing healthcare through innovation to improve quality of life for all citizens.”

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