This is a news story, published by The University of Adelaide, that relates primarily to Rett Syndrome news.
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genetic diagnostic methodThe University of Adelaide
•
85% Informative
A genetic diagnostic method using a small sample of skin from the upper arm could identify rare neurodevelopmental disorders in a non-invasive way.
Currently, conditions caused by a significant disruption during brain development, like Rett Syndrome , epilepsy and Down Syndrome , affect one in 50 Australian children.
Researchers at the University of Adelaide developed a way to transcribe genetic variations into RNA to help determine if they are disease causing and therefore improve genetic diagnosis.
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