Genetics

Researchers at Erasmus MC have discovered a new mechanism to repair an important type of DNA damage. It concerns damage that manifests as a protein pimple on the DNA and likely plays a role in aging. ‘Not much research had been done on this yet.’

Pediatrician Daniëlle Veenma and neuroscientist Geeske van Woerden are collaborating on a treatment for the rare CAMK2 syndrome. Currently, a cure is not possible. With funding from the Dutch Hersenstichting, they are mapping out the potential of a form of gene therapy. ‘We have good hope that we will succeed.’

As a young scientist, Siamala Sinnadurai dedicated her career to data science. Already during her PhD, she achieved success. She linked a gene for leukemia to cardiovascular disease prognosis. ‘Human diseases are so complex that a cross-disciplinary view is essential.’

Erasmus MC scientists, together with international colleagues, have discovered genes that determine what your ears and eyebrows look like. In the future, that knowledge may become applicable in search for the unknown perpetrator in cold cases.

Some pieces of human DNA are tightly wrapped in a jacket of proteins. Intended to turn off genes, was the prevailing idea in science. Rotterdam researchers now uncover a new function of protein packaging in Nature Cell Biology. ‘This is huge.’

Researchers at Erasmus MC have developed a method by which they can tell from DNA whether someone is a smoker. In the future, this knowledge may help police to reduce the group of possible suspects in a stalled criminal case.

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.