USP researchers identify genetic variant explaining rare childhood neurological disease

An 11-year-old girl with CONDSIAS experiences progressive neurological deterioration including epilepsy, motor coordination loss, and developmental delays, with symptoms severely worsened by viral infections.

At the University of São Paulo, researchers have done what medicine could not do for this condition just a decade ago: they have named the molecular culprit behind a rare childhood neurological disease, tracing its devastation to a single malfunctioning protein. CONDSIAS — a disorder that strips children of coordination, invites seizures, and worsens with every common viral illness — has now yielded its genetic secret, a novel variant in the ADPRS gene identified through the careful sequencing of an 11-year-old girl's DNA. In the long human effort to transform suffering from mystery into meani

USP researchers identify genetic variant explaining rare childhood neurological disease

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