Overview of EU medical genetics and population genomics research Milan Macek Prof. MD, DSc Charles University Prague Czech Republic St. Petersburg October 11, 2007

Rationale for EU funding for population genetics and biobanks Population genetics can be used to characterize complex / multifactorial diseases in respect to the genetic and environmental determinants This requires access to large-scale biobanks containing genotypic, clinical, and environmental and life style information on individuals, along with corresponding clinical specimens Significant advantage could be gained by pooling and harmonizing the resources already available or under construction in different Member States and Associated States Access to greater cohort size and data set would give better statistical power to study associations between genotype, environment, and lifestyle  Comparative population genetic studies on common diseases in European Union and Russia (FP7 SICA 3r Call 2008) Editorial in Am J Hum Genet 81:199; 2007 (MPI Berlin)

Research projects related to population genetics and biobanks funded in FP6 GENOMEUTWIN (IP) Genome-wide analyses of European twin and population cohorts to identify genes predisposing to common diseases (Leena Peltonen, Helsinki) MOLPAGE (IP) Molecular Phenotyping to Accelerate Genomic Epidemiology (John Bell, Oxford) CCPRB (NoE) Cancer control using population-based registries and biobanks (Joakim Dillner, Lund) EUROSPAN (STREP) European Special Populations research Network: quantifying and harnessing genetic variation for gene discovery (Harry Campbell, Edinburgh) GenOSept (STREP) Genetics of Sepsis in Europe (ESICM, Brussels, Frank Stüber, Bonn)

Funded so far in FP6: Policy-Networking coordination PHOEBE (CA) Promoting harmonisation of epidemiological biobanks in Europa (Jennifer Harris, Oslo) IMPACTS (CA) Archive tissues: improving molecular medicine research and clinical practice (Giorgio Stanta, Trieste) DanubianBiobank (SSA) Establish quality-controlled central biobanks for non-cancer aging-disorders (Gerd Schmitz, Regensburg) HUMGERI (SSA) Human genomic research integration (Laszlo Fesus, Debrecen) EUHealthGen (SSA) Wellcome Trust/EU Commission conference ‘FROM BIOBANKS TO BIOMARKERS’:Translating the Potential of Human Population Genetics Research (20 – 22 September 2005 (Alan Doyle, Wellcome Trust, London)

Unit 1 Unit 2 Unit 3 Unit 4 Unit 5 Unit 6 Capability

Unit 2 An encyclopedia ♦ About 1800 diseases ♦ 662 review articles English and French ♦ 1800 summaries in 6 languages ♦ Expert- authored ♦ Peer-reviewed: International board ♦ Free access, online publication: OJRD ♦ Partnership with EJHG A directory of services ♦ 2,227 expert clinics ♦ 1,094 clinical labs ♦ 1,751 research labs ♦ 529 clinical trials ♦ 3,696 research projects ♦ 220 registries ♦ 367 networks ♦ 1,381 advocacy groups ♦ 7,920 professionals

+ Legal Issues

Highlights of the short-listed proposals FP7 1st call Unifying human and model organism genetic variation databases GEN2PHEN: integrated approach to unifying human and model organism genetic variation databases, such that the resulting holistic view of genotype to phenotype data can be blended with other biomedical databases, such the central genome browser ENSEMBL. (Large-scale Collaborative project) Groundbreaking techniques for DNA sequencing and genotyping READNA: revolutionary approaches and devices for nucleic acid analysis to boost the possibilities of genetic research by closing in on the target of €1000 for the sequence of a complete human genome. (Large-scale Collaborative project)

Highlights of the short-listed proposals FP7 1st call Molecular epidemiological studies in well characterised EU And international cohorts ENGAGE: to integrate the results of many large-scale genetic studies currently under way in Europe and Australia and to identify novel disease- and trait-susceptibility variants for multifactorial diseases. (Large-scale Collaborative project) HYPERGENES: whole-genome association approaches to study genes contributing to the Essential Hypertension (EH) and to the EH associated Target Organ Damage. (Large-scale Collaborative project)

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