About our research
Our group focuses on the driving genetic factors behind rare and developmental disorders. Our current research can be divided two major compartments: Inherited Retinal Disease and Gonadal Developmental genetics. We have active projects on RPE65-associated IRD, North-Carolina Macular Dystrophy, targeted gene therapy for IRD, Blepharophimosis syndrome and Disorders of Sex Development. We leave no stone unturned and use state-of-the-art laboratory techniques to investigate at both the genomic (single nucleotide variations, structural variants and copy number variations) and the epigenomic (regulatory elements, non-coding RNAs and epigenetic modifications) level. For functional analyses we use commercially available cell lines, iPSC-derived cell lines, patient-derived cells as well as frog in vivo models (Xenopus tropicalis). It is our hope that by mapping the complex (epi-)genetic landscape of rare diseases as thoroughly as possible, future patients can enjoy better treatment options and a better quality of life.