About
Our group focuses on the driving genetic factors behind rare and developmental disorders. Our current research can be divided three major compartments: 1. Inherited Retinal Disease, 2. General Developmental Disorders and 3. Disorders of Sex Development. We have active projects on Stargardt Disease, North-Carolina Macular Dystrophy and Blepharophimosis syndrome. 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, 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 rare diseases as thoroughly as possible, future patients can enjoy better treatment options and a better quality of life.
Our latest paper describing complex structural variants in CEP78 by use of long-read sequencing is provisionally accepted by Frontiers in Cell and Developmental Biology and can be found here.
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