Research

The Institute of Human Genetics at the University of Regensburg, addressing various aspects of the hereditary basis of different human diseases, is one of the bridging links between clinical medical disciplines and the basic natural sciences. Founded in 2004, the Institute has ever since dedicated its research to elucidating the genetic basis of disease and their underlying molecular pathomechanisms.  Building on the understanding of disease pathology, we have consequently focused our work in recent years on developing novel, targeted treatment options for selected Mendelian disorders. Furthermore, within the framework of translational human genetics, we aim to transfer the findings of basic research from rare Mendelian diseases to more common ones, especially cancer.

Besides historical interest in inherited and complex diseases of the retina, since 2024 the research at the Institute additionally focuses on syndromes with signs of premature aging (Segmental progeroid syndromes), selected developmental disorders and urogenital tumors.

To dissect the genetic basis of diseases we use several integrated Next-generation sequencing (NGS) approaches including whole-exome- and whole-genome-, RNA- and methylation-sequencing. Furthermore, NGS-based approaches aiming to characterize underlying genetic alterations, such as Cut&Tag sequencing, are constantly being developed. To determine deep functional aspects of underlying genetic alterations we have developed highly specialized assays utilizing various cell lines, including patient derived cell lines based on induced pluripotent stem cell (iPSC) technology, genome editing tools and high-end super-resolution confocal microscopy. 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 multi-OMICS sequencing data analysis.

The methodology we use allows, in principle, to analyse any hereditary disease, thus we are always open to new scientific collaborations.

Interdisciplinary exchange with research colleagues worldwide are integral part of our fundamental believe that only together we will make great discoveries on fascinating effects of genetic alterations on human health and disease.