About
Our group focuses on the driving genetic factors behind rare and developmental disorders. Our current research can be divided three major compartments: Inherited Retinal Disease, General Developmental Disorders and Disorders of Sex Development. We have active projects on Stargardt Disease, North-Carolina Macular Dystrophy and Blepharophimosis syndrome. We leave no stone unturned as we 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, patient derived cells as well as frog and zebrafish in vivo models (Xenopus tropicalis and Danio rerio). It is our hope that by mapping the complex (epi-)genetic landscape of these diseases as thoroughly as possible, future patients can enjoy better treatment options and a better quality of life.
