RTF I: Genomic diversity in chronic inflammatory diseases

Coordinator:AndreFranke(CAU)

RTFIemployslargecohortsandgeneticdatainordertoimproveourunderstandingofthecausesofchronicinflammatorydiseases.Forthispurpose,extensivesequencingdataiscombinedwithotherhigh-dimensionaldataandcontinuouslyupdatedclinicalinformation.AsakeyresourceinPMI,RTFIaimstogenerateGermany'slargestgeneticdatasetforinflammatorydiseases.

What does this research areaâs work build on?

Inrecentyears,extensivegeneticmapshavebeencreatedforvariousinflammatorydiseases,i.e.wenowknowmostcommongeneticriskfactors.ThereforethescientistsinRTFIhaveexperiencewithidentifyinggeneticriskfactorsandhavebuiltuptheappropriateresourcesfordoingso,suchasmappingtechnologiesandanalyticsaswellaslargeDNAcollections.

What are the main research objectives?

ThemaingoalsofRTFIare

  1. generatingoneofthebiggestinflammationcohortdatasetsforgenetic,clinicalandepidemiologicalresearch,
  2. identifyingandcharacterizingnewdiseasegenes,andinparticulardetectinganddeterminingthefrequently"hidden"monogeniccases,
  3. identifyingrarevariantsandstudygeneticresistance,so-calledresilience,
  4. identifyingclinicalphenotypesthatareassociatedwithgeneticvariantsoftheknownfunction(PheWAS),
  5. verifyingnewpharmacogenomicvariantsfortargetedinflammationtherapiesand
  6. identifyingriskandprotectivefactorsinfirst-degreerelativesofpatientswithchronicinflammatorydiseases.

What makes this research area special?

AuniquefeatureispatienteducationandourinformedpatientconsentthatisusedattheUSKHinKiel,theso-called"broadconsent".Onthisbasis,theresearcherswereabletobuildupanintegratedbiobankinhospitaloperations,whichwetermhealthcare-integratedbiobanking.Patientsandphysicianssupporttheresearchwithdataandsampleswithoutanyrestrictionstoroutinehealthcare.Withthehelpofthisinfrastructure,thescientistshavecollectedsamplesanddatafromover20,000patients(statusJanuary2020,furtherinformation:https://www.uksh.de/kohorte/en/)attheUSKHforPMIresearchpurposessofar.RTFIisplanningageneticanalysisoftheentirecohortandwantstogenerateGermany'slargestgeneticdatasetforinflammatorydiseases.

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

RTFIwillmakeanimportantcontributiontoprecisionmedicinebyidentifyingandresolving"hidden"monogenicandoligogeniccausesofdiseaseinpatientsfromthenormalhospitalroutine.Thereclassificationofthediseasemanifestation,theidentificationofefficientpreclinical/subclinicaldisordersandpharmacogenomicmarkersareprerequisitesforeachprecisionmedicineapproachandimportantpointsintheRTFIresearchprogram.Cross-diseaseanalyseswillhelptoidentifybothcommonaswellasdisease-specificsusceptibilityfactors,revealpleiotropicvariants,highlightcomprehensivetreatmentpathsandenableabetterunderstandingofthecomorbidities.Overall,RTFIstrivesforacompletedissolutionofthegenetictaxonomyofinflammatorydiseasesandtheirpossibletransferintoclinicalcareatanindividuallevel.

Cooperation with other research areas in the cluster

  • RTFIIforintegrationofthemicrobiomedata
  • RTFVIforsequence-basedanalyses
  • RTFXforfamilystudies("kindredcohorts")andclinicalcohortsfromtheCCIMs.

Members

Dr. Zouhair Aherrahrou

Associated member

University of Lübeck
Institute for Cardiogenetics

Prof. Dr. rer. nat. Norbert Arnold

Full member

UKSH Campus Kiel
Department of Gynecology and Obstetrics
Laboratory of Oncology

Prof. Dr. rer. nat. Petra Bacher

Full member

UKSH Campus Kiel
Department of Immunology

Prof. Dr. John Baines

Full member

Max Planck Institute for Evolutionary Biology
Institute of Experimental Medicine
Evolutionary Genomics

Prof. Dr. Lars Bertram

Full member

University of Lübeck
Lübeck Interdisciplinary Platform for Genome Analytics (LIGA)

Prof. Dr. Hauke Busch

Full member

UKSH Campus Lübeck
Lübeck Institute for Experimental Dermatology
System Biology of Inflammatory Diseases

Prof. Dr. med. Dr. rer. nat. Ingolf Cascorbi

Full member

UKSH Campus Kiel
Institute of Clinical and Experimental Pharmacology

Prof. Dr. rer. nat. Astrid Dempfle

Full member

UKSH Campus Kiel
Institute of Medical Informatics and Statistics

Prof. Dr. Ingo Eitel

Full member

UKSH Campus Lübeck
Medical Department II

Prof. Dr. David Ellinghaus

Full member

Kiel University
Institute of Clinical Molecular Biology
Centre for Molecular Biosciences

Dr. Eva Ellinghaus

Full member

Kiel University
Institute of Clinical Molecular Biology
Centre for Molecular Biosciences

Prof. Dr. rer. nat. Andre Franke

Full member

Kiel University
Institute of Clinical Molecular Biology
Genetics & Bioinformatics

Dr. Jeanette Franzenburg

Associated member

Kiel University
Institute of Clinical Molecular Biology
AG Prof. Franke

Dr. rer. nat. Sandra Freitag-Wolf

Associated member

UKSH Campus Kiel
Institute of Medical Informatics and Statistics

Prof. Dr. Timo Gemoll

Associated member

UKSH Campus Lübeck
Department of General Surgery

M. Sc. Maria Gretsova

Associated member

Kiel University
Institute of Clinical Molecular Biology
AG Prof. Ellinghaus

Dr. rer. hum. biol. Yask Gupta

Associated member

UKSH Campus Lübeck
Institute for Inflammation Medicine
AG Prof. Thaçi

Dr. Seirana Hashemi

Associated member

Kiel University
Institute of Clinical Molecular Biology
Centre for Molecular Biosciences
AG Prof. Ellinghaus

Dr. rer. nat. Matthias Hübenthal

Associated member

UKSH Campus Kiel
Department of Dermatology, Venereology and Allergology
AG Prof. Weidinger

Prof. Dr. Saleh Ibrahim

Full member

UKSH Campus Lübeck
Lübeck Institute for Experimental Dermatology
Genetics of Inflammatory Diseases

Prof. Dr. Josef Ingenerf

Full member

University of Lübeck
Institute for Medical Informatics

Prof. Dr. med. Ralf Junker

Full member

UKSH Campus Kiel
Institute of Clinical Chemistry
Central laboratory

Prof. Dr. Christine Klein

Full member

University of Lübeck
Institute of Neurogenetics

Prof. Dr. Inke König

Full member

University of Lübeck
Institute for Medical Biometrics and Statistics

Prof. Dr. rer. nat. Ben Krause-Kyora

Full member

Kiel University
Institute of Clinical Molecular Biology
Ancient DNA Research

Prof. Dr. rer. nat. Michael Krawczak

Full member

UKSH Campus Kiel
Institute of Medical Informatics and Statistics

Prof. Dr. med. Wolfgang Lieb

Full member

Kiel University
Institute of Epidemiology

Dr. rer. nat. Britt-Sabina Löscher

Associated member

Kiel University
Institute of Clinical Molecular Biology
Centre for Molecular Biosciences
AG Prof. Franke

Dr. Inga Matthies

Associated member

UKSH Campus Kiel
Institute of Clinical Chemistry
AG Prof. Junker

Prof. Dr. rer. nat. Silke Meiners

Full member

Kiel University
Institute of Experimental Medicine

c/o Research Center Borstel - Leibniz Lung Center
Immunology and Cell Biology
Priority Research Area Chronic Lung Diseases

Prof. Almut Nebel

Full member

Kiel University
Institute of Clinical Molecular Biology
Longevity Ancient DNA Research

Prof. Dr. Dirk Nowotka

Full member

Kiel University
Department of Computer Science
Dependable Systems

Dr. Tobias Reinberger

Associated member

University of Lübeck
Institute for Cardiogenetics
AG Prof. Erdmann

Dr. agr. Kristina Schlicht

Associated member

UKSH Campus Kiel
Institute of Diabetes and Clinical Metabolic Research
AG Prof. Laudes

Prof. Dr. rer. nat. Ruth Schmitz-Streit

Full member

Kiel University
Institute of General Microbiology
Molecular Biology of Microorganisms

Prof. Dr. med. Stefan Schreiber

Spokesperson

Kiel University
Institute of Clinical Molecular Biology

Prof. Dr. Silke Szymczak

Full member

University of Lübeck
Institute for Medical Biometrics and Statistics

Prof. Dr. Diamant Thaçi

Full member

UKSH Campus Lübeck
Comprehensive Center for Inflammation Medicine (CCIM)

Prof. Dr. Stephan Weidinger

Full member

UKSH Campus Kiel
Department of Dermatology, Venereology and Allergology

Prof. Dr. Inken Wohlers

Associated member

Research Center Borstel - Leibniz Lung Center
Biomolecular Data Science in Pneumology

Prof. Dr. Elmar Wolf

Full member

Kiel University
Institute of Biochemistry