Cross-phenotype Studies


Facts & Details: 

Genetic associations of inflammatory bowel disease - copyright: David Ellinghaus, 2015

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.

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