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Within 2.5 years, Erasmus MC clinical geneticist Stefan Barakat and his team reached a potential treatment and diagnosis for a previously unknown syndrome. They describe their discovery in Acta Neuropathologica. ‘Everything came together in this one study.’

One thing stands out about children with the rare SETD1B syndrome. More boys than girls have the disease, and boys are more severely affected. Scientist Kristina Lanko is on a quest to discover what causes this sex difference. ‘Brain cells are my favorite cells.’

A discovery by an international group of scientists has revived a 50-year-old philosophy about the origins of hearing loss. The ‘battery of the cochlea’ appears to play an important role.

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.

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.

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.