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Immunochip project & General considerations on genetic collaborations in PSC Tom Hemming Karlsen, MD PhD Clinic for Specialized Medicine and Surgery Oslo.

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Presentation on theme: "Immunochip project & General considerations on genetic collaborations in PSC Tom Hemming Karlsen, MD PhD Clinic for Specialized Medicine and Surgery Oslo."— Presentation transcript:

1 Immunochip project & General considerations on genetic collaborations in PSC Tom Hemming Karlsen, MD PhD Clinic for Specialized Medicine and Surgery Oslo University Hospital, Rikshospitalet Oslo, Norway Vienna, EASL 2010, April 16th

2 Shared and unique genetic risk Zhernakova et al., Nat Rev Genet 2009

3 Interpretation and translation GeneA GeneB GeneCGeneD GeneE Disease e.g. PBC or PSC Drug?

4 Shared genetic risk: Association studies Large study populations General mechanisms & general therapeutics Disease-specific genetic risk: Deep sequencing / mutational characterisation Extremely well-characterized populations/families Disease specific mechanisms & specific therapy Detection and translation of genetic risks

5 Shared genetic risk: Association studies Large study populations General mechanisms & general therapeutics Disease-specific genetic risk: Deep sequencing / mutational characterisation Extremely well-characterized populations/families Disease specific mechanisms & specific therapy Detection and translation of genetic risks

6 Dedicated Illumina array (Jeffrey Barrett) Wellcome Trust / Sanger Centre initiative 200,000 SNPs at genes already found to associate with different inflammatory conditions inflammatory disease phenotypes 175, ,000 DNA samples Purpose: define overlap in genetic risks between inflammatory diseases Benefit for PSC: low hopes for PSCspecific pharmaceutical initiatives Immunochip

7 Sample size ~4000 within reach – but don’t stop! - Nordic countries US/Canada UK Germany/BeNe Funded by Norwegian PSC research center Technical group - analysis group - writing group PSC paper + participation in Sanger meta-analysis Authorships: banner vs. semi-banner vs. individual Data-management / return of data to contributors Challenging the genetics collaboration…


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