Diseases have historically been defined along organ structures. However, recent genetic discoveries indicate that such a definition may not be appropriate in elucidating the genetic pathology, since one gene can be causative for several diseases. Hence, analyzing diseases along etiological pathways may improve our future ability to develop effective therapies.
Many GWAS studies and meta-analyses have been carried out to identify unknown genetic factors for single diseases, with many variants that each affect multiple traits, particularly across autoimmune diseases, cancers and neuropsychiatric disorders. Shared genetic risk loci have almost exclusively been identified by single-disease GWAS rather than in a combined systematic approach.
We work on the concept, realization and evaluation of cross-phenotype studies, i.e. analyzing multiple disease data sets simultaneously, to identify unreported shared and distinct genetic risk loci/variants. The main scientific objectives are the detection of inflammation genes, identification of pathophysiological signatures for groups of immune-mediated diseases, and a potential redefinition of disease groups along shared/distinct susceptibility genes, i.e. discarding the classical organ-centric classification.