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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
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) 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
www.genomeutwin.org
http://www.molpage.org
https://www.genosept.eu
Funded so far in FP6:
Policy-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 BIOMARKERS’:Translating the Potential of
Human Population Genetics Research (20 – 22 September 2005 (Alan
Doyle, Wellcome Trust, London)
http://www.p3gconsortium.org
http://www.postgenomeconsortium.com/cigmr/
http://www.geenivaramu.ee/index.php?show=main&lang=eng
http://www.p3gobservatory.org
Unit 1
Unit 2
Unit 3
Capability
Unit 4
Unit 5
www.eurogentest.org
Unit 6
Unit 2
An encyclopedia
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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
♦ 1,094
♦ 1,751
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529
♦ 3,696
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220
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367
♦ 1,381
♦ 7,920
expert clinics
clinical labs
research labs
clinical trials
research projects
registries
networks
advocacy groups
professionals
www.orpha.net
+ 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)
Thank you for your attention !
[email protected]