Tracking down the causes of rare diseases in children

(Image: Pixabay CC0) - The causes of intelligence impairment or epilepsy remain unexplained in more than 50 per cent of cases. Together with international colleagues, researchers at Leipzig University Hospital have discovered two genes with mutations that cause neurodevelopmental disorders in children. Their findings have now been published in scientific journals. Human geneticists at Leipzig University Hospital often undertake a complicated search when trying to explain developmental disorders in children, because the cause is often not immediately identifiable. The earlier the onset of epilepsy or intellectual disability, for example, the more likely there is a genetic cause behind it. When investigating the cause, the experts look at the complete coding sequence of the human genome of the person affected. They can make a diagnosis in about 40 to 50 per cent of cases.