»I am interested in people with rare genetic diseases. Healthcare is about making the correct diagnosis and counselling those affected. I also inform other attending doctors about secondary diseases and recommended check-ups. In research, I am particularly concerned with diseases whose molecular cause is unknown. With today's possibilities in genetic diagnostics, I have been able to contribute to uncovering the causes of several diseases. We recently succeeded in clarifying the cause of an extremely rare disorder and at the same time identified a mutation mechanism that could also underlie other common diseases such as cancer. Knowledge of the genetic basis of diseases is playing an increasing role in all medical disciplines at every age. It is therefore important to me to encourage an interest in human genetics among students.«
