Mission statement

We are performing research in the field of medical genetics with focus on rare Mendelian (orphan) disorders.

With our research activities we aim to gain new insights into the genetic and pathophysiological mechanisms causing these diseases.

We want to translate this new knowledge into clinical practice in order to I) enhance early diagnosis II) enable early prevention III) improve genetic counseling IV) ameliorate current management and V) develop new curative strategies for the affected individuals.