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Post-genomic applications in IBD: exploitation of genetic
information towards improved diagnosis and therapy
PI Mauro D'Amato, Department of Biosciences and Nutrition
Objectives
• Advance our understanding of inflammatory bowel disease pathogenesis by
• Studying expression profiles of all 170 known IBD risk genes and relevant pathways in different tissues from patients and
controls (focus on IL23R, IL13, NOD2)
• Correlating these profiles with genotype at all corresponding loci
• Establish disease diagnostic and predictive scores via computational integration of
• Phenotype data (at recruitment and follow-up for patients)
• Genotype data for all 170 known IBD risk loci
• “Omics” profiles (RNA/protein expression) for all 170 known IBD risk loci
• Pave the way for personalized therapeutic approaches based on
• Multilayer data integration (genotype, eQTL, GEX, drug targets and properties) for the identification of drug repositioning
candidates or new compounds
• In vitro and ex vivo preliminary validation of novel drug indications
Clinical cohorts
• Swedish Interception Cohort for IBD ~1000 newly diagnosed, treatment naive patients followed for 10
years (recruitment ongoing)
• blood, serum and intestinal biopsies
Technologies
• DNA/RNA/protein profiling, data integration and predictive modelling
AZ contributions
• Jan Kilhamn (CVGI), Magnus Ivarsson (TSC)