Syndromic neurodevelopmental diseases are characterized by a variable combination of congenital malformations, developmental disorders and intellectual disability. 

Our aim is (1) to identify causative genetic alterations of etiologically unexplained rare syndromic neurodevelopmental diseases (genotyping), (2) to achieve a better clinical characterization of these syndromes (phenotyping) and (3) to understand the molecular mechanisms of these syndromes, e.g. through epigenetic studies. This will improve the care and counseling of affected individuals and their families and provides the perspective of new treatment options in the future. 

Among other things, we are currently working on RNU-associated neurodevelopmental disorders that were only identified in 2024, which are a relatively common cause of syndromic developmental disorders/intellectual disability. Pathogenic variants in RNU4-2 lead to ReNU syndrome (OMIM #620851) and pathogenic variants in some other RNU genes have also been associated with syndromic conditions. In addition to the clinical characterization of these syndromes, we are investigating the pathogenic mechanisms of this very young group of disease-associated, small, non-coding RNAs in collaboration with the research group of Prof. Christel Depienne.