The genetic architecture of complex human diseases, which include Inborn Errors of Immunity, is likely to be influenced by several components. Among them are common and rare genetic variants, structural variants and gene-gene and gene-environment interactions. As a result, we need to expand the list of possible candidates on the one hand, while revising our assumptions about monogenic or oligogenic causality in many situations on the other.
In order to improve technology (e.g. optical genome mapping) and knowledge (clinical, genetic and molecular expertise as well as data) related to congenital immune disorders, we are currently establishing a joint “Freiburg-Hannover ImmunoGenetics Research Unit” (FH-IGRU). In this unit, we are combining the expertise and resources of the Institute of Human Genetics and the Department of Rheumatology and Immunology of the MHH with those of the Genetics and Genomics Unit of the CCI / IFI at the University Hospital of Freiburg.
In order to be able to efficiently analyse the large amount of genetic data, we have developed the immunogenetics platform GemmaDB. In addition, a subset of publicly available data has been made available on the internet in a satellite project (www.GeniaDB.net). Unlike other databases, which are mainly composed of computerised and linked information, GeniaDB will ensure that synthesized and evolving information is included – clinical and genetic paradigms and pitfalls, as well as new concepts and considerations specific to each patient situation, gene and disease. GenIA will also be a practical tool for healthcare providers to help them improve their genetic and functional testing strategies, interpretation of genetic test results and/or patient counselling.