Founded in 2004, the Institute of Human Genetics at the University of Regensburg has ever since dedicated its research to elucidating the genetic and molecular pathomechanisms of inherited and complex diseases of the retina. Building on our understanding of disease pathology, we have consequently focused our work in recent years on targeted treatment options to eventually bring our detailed knowledge to the patient’s rescue.
Having established state-of-the-art experimental model systems, such as patient derived cell lines based on induced pluripotent stem cell (iPSC) technology, genome editing tools or high-end super-resolution confocal microscopy, current research projects are addressing deep functional aspects of genetic variation and its effects on disease load. To a great extent, our efforts rely on high-dimensional data sets stemming from global genotyping, next generation sequencing or genome-wide expression analysis. To this end, our Institute has gained great proficiency in bioinformatics and statistical genetics with projects ranging from performing Genome Wide Association Studies (GWAS) to studies on expression quantitative trait loci (eQTL) and big batch RNA sequencing data analysis. Interdisciplinary exchange with research colleagues worldwide are integral part of our fundamental believe that only together we will begin to understand the highly specialized and fascinating retina in health and disease.