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Stefan Barakat of the Department of Clinical Genetics at Erasmus MC is one of twelve young researchers to receive an Early Career Award from the KNAW.

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.’

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.

The discovery of a new syndrome brings an end to the search for a diagnosis for hundreds of patients with an unexplained developmental disorder. “A diagnosis means recognition and acknowledgment.”

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.’

In a joint research project with Delft University of Technology and Leiden University Medical Center, internist-oncologist Stefan Sleijfer is looking for a drug that can prevent cancer from spreading. Remarkable: the researchers are searching in a library of substances that are already used in daily practice.

The Dutch Research Council (NWO) has awarded seven experienced researchers at Erasmus MC a Vidi grant worth 800,000 euros. The grant enables them to develop their own innovative line of research and set up their own research group in the coming five years.