RTF I: Genomic diversity in chronic inflammatory diseases

Coordinator: Andre Franke (CAU)

RTF I employs large cohorts and genetic data in order to improve our understanding of the causes of chronic inflammatory diseases. For this purpose, extensive sequencing data is combined with other high-dimensional data and continuously updated clinical information. As a key resource in PMI, RTF I aims to generate Germany's largest genetic data set for inflammatory diseases.

In recent years, extensive genetic maps have been created for various inflammatory diseases, i.e. we now know most common genetic risk factors. Therefore the scientists in RTF I have experience with identifying genetic risk factors and have built up the appropriate resources for doing so, such as mapping technologies and analytics as well as large DNA collections.

The main goals of RTF I are

generating one of the biggest inflammation cohort data sets for genetic, clinical and epidemiological research,
identifying and characterizing new disease genes, and in particular detecting and determining the frequently "hidden" monogenic cases,
identifying rare variants and study genetic resistance, so-called “resilience”,
identifying clinical phenotypes that are associated with genetic variants of the known function (PheWAS),
verifying new pharmacogenomic variants for targeted inflammation therapies and
identifying risk and protective factors in first-degree relatives of patients with chronic inflammatory diseases.

A unique feature is patient education and our informed patient consent that is used at the USKH in Kiel, the so-called "broad consent". On this basis, the researchers were able to build up an integrated biobank in hospital operations, which we term “healthcare-integrated biobanking”. Patients and physicians support the research with data and samples without any restrictions to routine healthcare. With the help of this infrastructure, the scientists have collected samples and data from over 20,000 patients (status January 2020, further information: https://www.uksh.de/kohorte/en/ ) at the USKH for PMI research purposes so far. RTF I is planning a genetic analysis of the entire cohort and wants to generate Germany's largest genetic data set for inflammatory diseases.

RTF I will make an important contribution to precision medicine by identifying and resolving "hidden" monogenic and oligogenic causes of disease in patients from the “normal” hospital routine. The reclassification of the disease manifestation, the identification of efficient preclinical/subclinical disorders and pharmacogenomic markers are prerequisites for each precision medicine approach and important points in the RTF I research program. Cross-disease analyses will help to identify both common as well as disease-specific susceptibility factors, reveal pleiotropic variants, highlight comprehensive treatment paths and enable a better understanding of the comorbidities. Overall, RTF I strives for a complete dissolution of the genetic taxonomy of inflammatory diseases and their possible transfer into clinical care at an individual level.

RTF II for integration of the microbiome data
RTF VI for sequence-based analyses
RTF X for family studies ("kindred cohorts") and clinical cohorts from the CCIMs.

What does this research area’s work build on?

What are the main research objectives?

What makes this research area special?

What does the research area contribute to precision medicine in chronic inflammation?

Cooperation with other research areas in the cluster

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