Only 40 patients worldwide are known to have Barakat-Perenthaler syndrome, a severe untreatable form of epilepsy. Four years after discovering the disease, its Rotterdam namesakes are now on the trail of a treatment.
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Genetics is more than just genes; this has been known for some time. But how do you find your way around the millions of pieces of DNA whose function is not yet known? Researchers at Erasmus MC took a big step in separating the wheat from the chaff during brain development.
At Erasmus MC, doctors, psychologists and scientists have started an expertise center for individuals with autism spectrum disorder with a rare genetic cause. Their goal: better care and scientific insights.