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Published byAriel Noyce Modified over 10 years ago
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General considerations on genetic collaborations in PSC
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
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Shared and unique genetic risk
Zhernakova et al., Nat Rev Genet 2009
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Interpretation and translation
GeneA GeneB Drug? GeneC GeneD Disease e.g. PBC or PSC GeneE
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Detection and translation of genetic risks
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
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Detection and translation of genetic risks
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
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Immunochip Dedicated Illumina array (Jeffrey Barrett)
Wellcome Trust / Sanger Centre initiative 200,000 SNPs at genes already found to associate with different inflammatory conditions 10-15 inflammatory disease phenotypes 175, ,000 DNA samples Purpose: define overlap in genetic risks between inflammatory diseases Benefit for PSC: low hopes for PSC specific pharmaceutical initiatives
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Challenging the genetics collaboration…
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
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