Rare diseases

Clinical genetics

Zebrafish pinpoints culprit in rare brain disease ALSP

In people with the rare neurological disease ALSP, the white matter in the brain shrivels up, resulting in death. New research by Erasmus MC scientists shows what is going on: loss of microglia, the brain’s ‘cleaning cells.’

Erasmus MC joins five European Reference Networks

Erasmus MC will join five European Reference Networks (ERNs) for complex and rare diseases as of January 1, 2022. This will make Erasmus MC a participant in 23 of the 24 existing networks.

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.

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.