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Elena Perenthaler and Stefan Barakat

Barakat-Perenthaler syndrome

Discoverers of very rare form of epilepsy now on track to treatment

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.

DNA genes

Bioinformatics

Signposts for genetically unexplained brain disorders

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.

UNIEK researchers are travelling the country in the Sophia Bus

Expertise center

New center comprehensively maps patient with rare form of autism

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.

hearing loss

Stria vascularis

Discovery revives old theory of the origins of hearing loss

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.

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