Rare diseases

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 patient with an immune disorder and neurological problems brought together an international team of scientists and clinicians from Rotterdam and Vienna. Together they determined that all his symptoms have the same genetic cause.

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 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.

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.

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.