Genetics

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.’

Give researchers at Erasmus MC a tube of mixed blood from several people, and they tell you how many people’s material it contains. And who they are. This new approach is particularly useful in forensic science, where crime scene traces are more often mixed than not mixed.

Joining the forces and expertise of clinicians, laboratory specialists and scientists is essential in providing the best care for people with hereditary and familial tumors. Erasmus MC’s ‘Academic Center for Familial and Hereditary tumors’ brings these groups together.

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.’

Building bridges between the field of genomics and society. That is what students of the new research master Genomics in Society are being trained for. The first students will start in September 2022.

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.’

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.

Molecular radiation biologist Dr. Julie Nonnekens and developmental psychologist Dr. Charlotte Cecil have both been granted a Starting Grant from the European Research Council (ERC). With the prestigious grant the young scientists of Erasmus MC can expand their research projects.