Snmek 1

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Overview of EU medical genetics and population
genomics research
Milan Macek Prof. MD, DSc Charles University
Prague Czech Republic
St. Petersburg October 11, 2007
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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 81199 2007 (MPI
  Berlin)

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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) www.genomeutwin.org
• MOLPAGE (IP) Molecular Phenotyping to Accelerate
  Genomic Epidemiology (John Bell, Oxford)
  www.molpage.org
• CCPRB (NoE) Cancer control using population-based
  registries and biobanks (Joakim Dillner, Lund)
  www.cancerbiobank.org
• 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)
  www.genosept.eu

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www.genomeutwin.org
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http//www.molpage.org
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https//www.genosept.eu
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Funded so far in FP6Policy-Networking
coordination

• PHOEBE (CA) Promoting harmonisation of
  epidemiological biobanks in Europa (Jennifer
  Harris, Oslo) www.phoebe-eu.org
• 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) www.danubianbiobank.de
• HUMGERI (SSA) Human genomic research integration
  (Laszlo Fesus, Debrecen) www.humangenom.hu
• EUHealthGen (SSA) Wellcome Trust/EU Commission
  conference FROM BIOBANKS TO BIOMARKERSTranslati
  ng the Potential of Human Population Genetics
  Research (20 22 September 2005 (Alan Doyle,
  Wellcome Trust, London)

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http//www.p3gconsortium.org
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http//www.postgenomeconsortium.com/cigmr/
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http//www.geenivaramu.ee/index.php?showmainlang
eng
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http//www.p3gobservatory.org
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Unit 1
Unit 2
Unit 3
Capability
Unit 4
Unit 6
Unit 5
www.eurogentest.org
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Unit 2
A directory of services
An encyclopedia

• 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

• 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

www.orpha.net
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Legal Issues
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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)

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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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• Thank you for your attention !
• milan.macek.jr_at_LFmotol.cuni.cz