Search results

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.

Internist and oncologist Stefan Sleijfer and hospital pharmacist Roelof van Leeuwen of Erasmus MC Cancer Institute are working closely together to make cancer therapies more effective. This is not only good for patients, but also for public coffers and for the environment. These efforts save the department of Internal Oncology about EUR 7 million per […]